7f203508b966fda6d635e77f4a1a76f9c8cce612
BACH2.md
| ... | ... | @@ -27,11 +27,7 @@ timeline |
| 27 | 27 | |
| 28 | 28 | ## Mutation pattern and selective pressure estimates |
| 29 | 29 | |
| 30 | -|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
|
| 31 | -|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
|
| 32 | -|BL |Yes |No |0.652 | 0.000 | |
|
| 33 | -|DLBCL |Yes |No |0.949 | 0.000 | |
|
| 34 | -|FL |Yes |No |0.000 |28.997 | |
|
| 30 | +[[include:dnds_BACH2.md]] |
|
| 35 | 31 | |
| 36 | 32 | ## aSHM regions |
| 37 | 33 |
BCL6.md
| ... | ... | @@ -40,11 +40,7 @@ timeline |
| 40 | 40 | |
| 41 | 41 | ## Mutation pattern and selective pressure estimates |
| 42 | 42 | |
| 43 | -|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
|
| 44 | -|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
|
| 45 | -|BL |Yes |No | 7.427 | 0.000 | |
|
| 46 | -|DLBCL |Yes |Yes |25.672 |60.803 | |
|
| 47 | -|FL |Yes |Yes |27.215 |62.162 | |
|
| 43 | +[[include:dnds_BACH2.md]] |
|
| 48 | 44 | |
| 49 | 45 | ## aSHM regions |
| 50 | 46 |
BCL7A.md
| ... | ... | @@ -43,11 +43,7 @@ timeline |
| 43 | 43 | |
| 44 | 44 | ## Mutation pattern and selective pressure estimates |
| 45 | 45 | |
| 46 | -|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
|
| 47 | -|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
|
| 48 | -|BL |Yes |Yes | 9.127 | 46.248 | |
|
| 49 | -|DLBCL |Yes |Yes |22.635 | 0.000 | |
|
| 50 | -|FL |Yes |Yes |55.348 |146.110 | |
|
| 46 | +[[include:dnds_BCL7A.md]] |
|
| 51 | 47 | |
| 52 | 48 | ## aSHM regions |
| 53 | 49 |
test1.md
| ... | ... | @@ -0,0 +1,1777 @@ |
| 1 | +# Supplemental Methods and Results |
|
| 2 | + |
|
| 3 | +## Sources of B-cell lymphoma genes |
|
| 4 | + |
|
| 5 | +Any study that described at least one gene as recurrently mutated in |
|
| 6 | +DLBCL, FL or BL was eligible to contribute to the gene lists. The |
|
| 7 | +current lists relied on a total of 37 studies for DLBCL,^1--37^ 15 |
|
| 8 | +studies for FL,^7,10,16,19,22,26,36,38--45^ and 13 studies for |
|
| 9 | +BL.^43,46--57^ |
|
| 10 | + |
|
| 11 | +## Procedure for gene retirement (Tier 3) |
|
| 12 | + |
|
| 13 | +The pattern of mutations in Tier 2 genes has, by definition, not been |
|
| 14 | +independently reproduced. To counteract the continued growth of Tier 2 |
|
| 15 | +over time, genes can be retired to Tier 3 in certain scenarios. |
|
| 16 | +Specifically, when a new analysis or scrutiny of the original data draws |
|
| 17 | +the validity of a gene or study into question, Tier 2 genes from a study |
|
| 18 | +may be retired idividually or *en masse*, depending on the situation. |
|
| 19 | +Ideally, the entire set of mutations that led to the original nomination |
|
| 20 | +of each gene will be reviewed individually to reduce the likelihood that |
|
| 21 | +a gene is retired unnecessarily. However, when systematic manual review |
|
| 22 | +is impossible, genes may be retired when the originating study is deemd |
|
| 23 | +to have low reproducibility. In these rare situations, all Tier 2 genes |
|
| 24 | +from that study can be moved to Tier 3. |
|
| 25 | + |
|
| 26 | +1. Where feasible, all variants reported in the original study are |
|
| 27 | + subjected to manual review using the primary data and each mutation |
|
| 28 | + is rated on a five-point scale. Following review, any Tier 2 gene |
|
| 29 | + with an average quality score less than 3 for all variants is moved |
|
| 30 | + to Tier 3 and the other genes remain in their current Tier. The |
|
| 31 | + results from applying this procedure to genes from six studies are |
|
| 32 | + included in the [subsequent section](#manual), focusing on |
|
| 33 | + representative examples of mutations in genes that were retired. |
|
| 34 | + |
|
| 35 | +2. In scenarios where only some of the data are available, the quality |
|
| 36 | + of a study may instead be used to retire genes *en masse*. If a |
|
| 37 | + separate analysis of the data from the study or re-sequencing of |
|
| 38 | + samples from the study cumulatively replicates less than 50% the |
|
| 39 | + variants in Tier 2 genes, all genes arising from that study can be |
|
| 40 | + assigned to Tier 3 (unless they are already in Tier 1). This |
|
| 41 | + procedure is described in more detail at the [end of this |
|
| 42 | + document](#replicability). This study-wide retirement is an |
|
| 43 | + alternative to the first approach and should only be performed when |
|
| 44 | + all Tier 2 genes from the study cannot be individually reviewed due |
|
| 45 | + to lack of access to some or all the primary data. |
|
| 46 | + |
|
| 47 | +## Procedure 1: Manual review `<a name="manual">`{=html}`</a>`{=html} |
|
| 48 | + |
|
| 49 | +While establishing the current gene lists, six studies were selected for |
|
| 50 | +manual review of the primary data. Studies were chosen based on data |
|
| 51 | +availability and the relative proportion of orphan genes. For each |
|
| 52 | +study, bam files were obtained from the European Genome-Phenome Archive |
|
| 53 | +(EGA) or dbGAP. The positions reported as mutated in each patient sample |
|
| 54 | +were visualized in the corresponding sequence data using IGV or |
|
| 55 | +[igv-reports](https://github.com/igvteam/igv-reports). When available, |
|
| 56 | +the data from the tumor and matched normal sample was visualized in |
|
| 57 | +parallel. As described |
|
| 58 | +[previously](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1.full), |
|
| 59 | +each variant was assigned a rating on a 5-point scale with 1 reserved |
|
| 60 | +for variants having the minimal support (one molecule) and 5 |
|
| 61 | +representing variants with the best support. For every novel gene |
|
| 62 | +reported in a study, all mutations in that gene were rated. A gene was |
|
| 63 | +considered to have inadequate support (failed) if the average rating of |
|
| 64 | +all variants reviewed was less than 3. Representative visualizations and |
|
| 65 | +the average rating for each of these genes and studies are included |
|
| 66 | +below. For each study, a single example of a gene that passed manual |
|
| 67 | +review is shown for comparison. The table below summarises these |
|
| 68 | +studies. |
|
| 69 | + |
|
| 70 | +::: {style="page-break-after: always;"} |
|
| 71 | +::: |
|
| 72 | + |
|
| 73 | + ----------------------------------------------------------------------- |
|
| 74 | + Study Methodology Entity |
|
| 75 | + ----------------------------- ----------------------- ----------------- |
|
| 76 | + [Love *et al*, Exome BL |
|
| 77 | + 2012^50^](#love) |
|
| 78 | + |
|
| 79 | + [Morin *et al*, WGS DLBCL |
|
| 80 | + 2013^18^](#morin) |
|
| 81 | + |
|
| 82 | + [Reddy *et al*, Exome DLBCL |
|
| 83 | + 2017^28^](#reddy) |
|
| 84 | + |
|
| 85 | + [Panea *et al*, Exome/RNA-seq BL |
|
| 86 | + 2019^52^](#panea) |
|
| 87 | + |
|
| 88 | + [Chapuy *et al*, Exome DLBCL |
|
| 89 | + 2018^4^](#chapuy) |
|
| 90 | + |
|
| 91 | + [Hübschmann *et al*, WGS DLBCL,FL |
|
| 92 | + 2021^10^](#icgc) |
|
| 93 | + ----------------------------------------------------------------------- |
|
| 94 | + |
|
| 95 | +## Procedure 2: Assessing reproducibility `<a name="replicability">`{=html}`</a>`{=html} |
|
| 96 | + |
|
| 97 | +It is often not feasible to scrutinze each mutation in the primary data. |
|
| 98 | +In lieu of this, Tier 3 status can also be applied study-wide. |
|
| 99 | +Specifically, genes may be retired study-wide if a re-analysis of the |
|
| 100 | +same data (or new data from the same samples) does not reproduce at |
|
| 101 | +least 50% of the mutations in the Tier 2 genes from that study. Most |
|
| 102 | +commonly, we anticipate this scenario will arise when two separate |
|
| 103 | +studies (Study A and Study B) describe the analysis of some (or all) the |
|
| 104 | +same primary data and each study releases either their variant calls or |
|
| 105 | +per-gene mutation frequencies. For example, the 48 DLBCLs profiled by |
|
| 106 | +The Cancer Genome Atlas (TCGA) were used in several studies. Although |
|
| 107 | +each study performed their own variant calling, exome-wide variant calls |
|
| 108 | +from the central analysis pipelines in Genome Data Commons (GDC) are |
|
| 109 | +available from the GDC data portal. |
|
| 110 | + |
|
| 111 | +### Option A: Comprehensive assessment |
|
| 112 | + |
|
| 113 | +To quantify their reproducibility, three of the studies in the previous |
|
| 114 | +section were also re-analyzed using our in-house variant calling |
|
| 115 | +pipelines. The results are summarized in the table below. Importantly, |
|
| 116 | +the threshold for determining whether a study is sufficiently |
|
| 117 | +reproducible must accomodate a reasonable level of variability that |
|
| 118 | +could be attributed to different variant calling strategies. We selected |
|
| 119 | +the Chapuy study as a representative baseline for adequate |
|
| 120 | +reproducibility. This study reported 19 genes that have not yet been |
|
| 121 | +assigned to Tier 1 (Supplemental Table S7). Of the 75 mutations in these |
|
| 122 | +genes, 58 (77.3%) were also detected by our analysis. In contrast, far |
|
| 123 | +fewer of the mutations in the 37 and 54 genes respectively reported in |
|
| 124 | +the Panea and Reddy studies were reproduced (Supplemental Table S8). |
|
| 125 | +Based on this outcome, all Tier 2 genes from the Panea, Reddy and Fan |
|
| 126 | +studies could be retired from their respective lists (BL for Panea, |
|
| 127 | +DLBCL for the others). However, because the primary data were available |
|
| 128 | +for systematic manual review, procedure 1 applies. Hence, the Tier 2 |
|
| 129 | +genes with a sufficiently high average variant score following review |
|
| 130 | +remain in Tier 2. Notably, the high proportion of novel genes from the |
|
| 131 | +Reddy and Panea study that failed manual review is consistent with a |
|
| 132 | +lower degree of overall reproducibility. |
|
| 133 | + |
|
| 134 | +### Option B: Partial assessment |
|
| 135 | + |
|
| 136 | +We used a less comprehensive approach to evaluate the two additional |
|
| 137 | +studies that each contributed a large number of Tier 2 genes (Fan *et |
|
| 138 | +al* and Zhang *et al*). For the former, which analyzed TCGA data, we |
|
| 139 | +relied on TCGA mutation calls from the same samples, which were obtained |
|
| 140 | +from GDC data portal. Because individual mutations were not reported in |
|
| 141 | +the Fan study, it was only feasible to compare the mutation incidence |
|
| 142 | +per-gene between the Fan study and the GDC results. For each of the 72 |
|
| 143 | +Tier 2 genes from that study, we compared the total number of non-silent |
|
| 144 | +mutations in that gene between the study supplement and GDC results. |
|
| 145 | +Whereas Fan *et al* reported a total of 217 mutations in these genes, |
|
| 146 | +there were only 81 in the GDC results (Supplemental Table S9). Because |
|
| 147 | +the total number of mutations in these genes in the GDC results was less |
|
| 148 | +than half of the original study (37.3%), all Tier 2 genes from this |
|
| 149 | +study were retired. Notably, this approach is relatively lenient because |
|
| 150 | +it assumes that the 81 mutations in the GDC results were all present in |
|
| 151 | +the Fan results. If, in fact, some of the GDC variants were not |
|
| 152 | +identified in the Fan analysis, the number of shared variants would be |
|
| 153 | +lower. |
|
| 154 | + |
|
| 155 | +We used another approach to assess the reproducibility of the Zhang |
|
| 156 | +study. In this case, we relied on 16 samples from the Zhang study and |
|
| 157 | +assumed these would be representative of the full cohort. A more recent |
|
| 158 | +study by this group (Reddy *et al*) performed exome sequencing on 16 of |
|
| 159 | +the samples from the Zhang cohort. We reasoned that a set of samples |
|
| 160 | +subjected to whole exome sequencing by the same group should recover |
|
| 161 | +most of the mutations reported in the original study. To quantify the |
|
| 162 | +reproducibility of mutations in the genes reported in the Zhang study, |
|
| 163 | +we compared the mutation status of each Tier 2 gene in these patients to |
|
| 164 | +the results from our in-house reanalysis of these exomes, which was |
|
| 165 | +performed as part of our ongoing Genomic Analysis of Mature B-cell |
|
| 166 | +Lymphomas (GAMBL) project. A minority (48.7%) of the mutations in these |
|
| 167 | +genes were identified by our analysis of the more recent exomes |
|
| 168 | +(Supplemental Table S10). Owing to this, all Tier 2 genes from this |
|
| 169 | +study were migrated to Tier 3. |
|
| 170 | + |
|
| 171 | + --------------------------------------------------------------------------- |
|
| 172 | + Study Novel genes Failed review Mutations Mutations |
|
| 173 | + reported reproduced |
|
| 174 | + --------------- -------------- -------------- -------------- -------------- |
|
| 175 | + Chapuy^4^ 19 6 (31.5%) 75 58 (77.3%) |
|
| 176 | + |
|
| 177 | + Panea^52^ 37 22 (59.4%) 365 145 (39.7%) |
|
| 178 | + |
|
| 179 | + Reddy^28^ 54 26 (48%) 1398 484 (34.6%) |
|
| 180 | + |
|
| 181 | + Fan\*^9^ 73 NA 217 81 (37.3%) |
|
| 182 | + |
|
| 183 | + Zhang\*\*^37^ 280 NA 263 128 (48.7%) |
|
| 184 | + --------------------------------------------------------------------------- |
|
| 185 | + |
|
| 186 | +\*Mutations from this study were not released. Only gene-level |
|
| 187 | +comparisons were performed. |
|
| 188 | + |
|
| 189 | +\*\*Gene-level comparisons were performed on 16 cases overlapping the |
|
| 190 | +Reddy cohort. |
|
| 191 | + |
|
| 192 | +## Potential contribution of rare germline variants |
|
| 193 | + |
|
| 194 | +As detailed in Supplemental Table S5, many of the studies contributing |
|
| 195 | +to our gene lists did not have matched germline DNA from every sample. |
|
| 196 | +It has been shown that some genes have disproportionately higher numbers |
|
| 197 | +of rare germline variants. The genes with the highest number of rare |
|
| 198 | +variants overall have been described in a recent study as FrequentLy |
|
| 199 | +mutAted GeneS (FLAGS)^58^. These genes should be considered with caution |
|
| 200 | +in any study that associates them with a phenotype. Insufficient removal |
|
| 201 | +of germline variants in the studies explored herein could explain some |
|
| 202 | +of the genes in Tiers 2 and 3. To evaluate this, we used the ranking of |
|
| 203 | +the frequency of rare mutations in all genes covered by common exome |
|
| 204 | +panels. This "FLAGS rank" assignes the lowest rank to genes with the |
|
| 205 | +highest number of rare variants (e.g. TTN = 1, MUC16 = 2, OBSCN = 3, |
|
| 206 | +etc). We used the distribution of ranks across the three tiers of DLBCL |
|
| 207 | +genes to evaluate the relative extent to which the genes on each list |
|
| 208 | +may be explained, in part, by inadequate removal of rare germline |
|
| 209 | +variants. If there is no influence on genes, the FLAGS_rank is expected |
|
| 210 | +to follow a uniform distribution. Accordingly, we compared each of the |
|
| 211 | +four gene lists to a uniform distribution using a negative binomial |
|
| 212 | +regression. Interestingly, the distributions of FLAGS_rank for Tier 2 |
|
| 213 | +and Tier 3 and the Cosmic Cancer Gene Census (CGC)^59^ genes were |
|
| 214 | +significantly different than the uniform distribution. In contrast, the |
|
| 215 | +distribution for Tier 1 genes was not significantly different from a |
|
| 216 | +uniform distribution. This is consistent with the Tier 1 DLBCL genes |
|
| 217 | +having minimal contamination of genes due to rare germline variants. To |
|
| 218 | +evaluate whether the separation of genes into Tiers 2 and 3 offers some |
|
| 219 | +benefit in this regard, we compared the Tier 2 DLBCL genes to the other |
|
| 220 | +lists. Indeed, Tier 2 showed a significant difference when compared to |
|
| 221 | +Tier 3 (P=3.86e-06). Based on this, we conclude that the Tier 3 gene |
|
| 222 | +list is dominated by FLAGS whereas Tier 2 represents a mixture of true |
|
| 223 | +DLBCL genes and FLAGS. |
|
| 224 | + |
|
| 225 | +<figure> |
|
| 226 | +`<img src="FLAGS_rank_boxplot.png" alt="flags1" style="width:500px;"/>`{=html} |
|
| 227 | +<figcaption> |
|
| 228 | +`<strong>`{=html}Supplemental Figure S1. Comparing FLAGS rank in the |
|
| 229 | +DLBCL genes.`</strong>`{=html} `<br>`{=html} The FLAGS rank of DLBCL |
|
| 230 | +genes in Tier 1, 2 and 3 is compared. The genes in the COSMIC CGC list |
|
| 231 | +are included for comparison. Values closer to 1 indicate the gene has a |
|
| 232 | +higher number of rare germline variants. |
|
| 233 | +</figcaption> |
|
| 234 | +</figure> |
|
| 235 | + |
|
| 236 | +::: {style="page-break-after: always;"} |
|
| 237 | +::: |
|
| 238 | + |
|
| 239 | +## Representative results from manual review |
|
| 240 | + |
|
| 241 | +### [Love *et al*, 2012](https://www.nature.com/articles/ng.2468) `<a name="love">`{=html}`</a>`{=html} |
|
| 242 | + |
|
| 243 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 244 | + ------------- ------- ----------------- ------------ -------- -------- ---------- |
|
| 245 | + Exome 14 37 8 5 7 48 (80%) |
|
| 246 | + |
|
| 247 | +*See also:* [IGV |
|
| 248 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/) |
|
| 249 | + |
|
| 250 | +### CARD4 - pass |
|
| 251 | + |
|
| 252 | + |
|
| 253 | + |
|
| 254 | +Average rating: ★ ★ ★ ★ ☆ |
|
| 255 | + |
|
| 256 | +### ACAD9 - fail (insufficient support) |
|
| 257 | + |
|
| 258 | + |
|
| 259 | + |
|
| 260 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 261 | + |
|
| 262 | +::: {style="page-break-after: always;"} |
|
| 263 | +::: |
|
| 264 | + |
|
| 265 | +### ACE - fail (insufficient support) |
|
| 266 | + |
|
| 267 | + |
|
| 268 | + |
|
| 269 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 270 | + |
|
| 271 | +### ATP2C2 - fail (insufficient support) |
|
| 272 | + |
|
| 273 | + |
|
| 274 | + |
|
| 275 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 276 | + |
|
| 277 | +::: {style="page-break-after: always;"} |
|
| 278 | +::: |
|
| 279 | + |
|
| 280 | +### BRAF - fail (insufficient support) |
|
| 281 | + |
|
| 282 | + |
|
| 283 | + |
|
| 284 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 285 | + |
|
| 286 | +### c6orf27 - fail (germline) |
|
| 287 | + |
|
| 288 | + |
|
| 289 | + |
|
| 290 | +Average rating: Germline |
|
| 291 | + |
|
| 292 | +::: {style="page-break-after: always;"} |
|
| 293 | +::: |
|
| 294 | + |
|
| 295 | +### BRD4 - fail (insufficient support) |
|
| 296 | + |
|
| 297 | + |
|
| 298 | + |
|
| 299 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 300 | + |
|
| 301 | +### CYB5D1 - fail (insufficient support) |
|
| 302 | + |
|
| 303 | + |
|
| 304 | + |
|
| 305 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 306 | + |
|
| 307 | +::: {style="page-break-after: always;"} |
|
| 308 | +::: |
|
| 309 | + |
|
| 310 | +### BTG2 - fail (insufficient support) |
|
| 311 | + |
|
| 312 | + |
|
| 313 | + |
|
| 314 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 315 | + |
|
| 316 | +### CAD - fail (insufficient support) |
|
| 317 | + |
|
| 318 | + |
|
| 319 | + |
|
| 320 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 321 | + |
|
| 322 | +::: {style="page-break-after: always;"} |
|
| 323 | +::: |
|
| 324 | + |
|
| 325 | +### CCT6B - fail (germline) |
|
| 326 | + |
|
| 327 | + |
|
| 328 | + |
|
| 329 | +Average rating: Gremline |
|
| 330 | + |
|
| 331 | +### CDH17 - fail (insufficient support) |
|
| 332 | + |
|
| 333 | + |
|
| 334 | + |
|
| 335 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 336 | + |
|
| 337 | +::: {style="page-break-after: always;"} |
|
| 338 | +::: |
|
| 339 | + |
|
| 340 | +### COL4A2 - fail (insufficient support) |
|
| 341 | + |
|
| 342 | + |
|
| 343 | + |
|
| 344 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 345 | + |
|
| 346 | +### CYP4F22 - fail (insufficient support) |
|
| 347 | + |
|
| 348 | + |
|
| 349 | + |
|
| 350 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 351 | + |
|
| 352 | +### DLGAP1 - fail (insufficient support) |
|
| 353 | + |
|
| 354 | + |
|
| 355 | + |
|
| 356 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 357 | + |
|
| 358 | +::: {style="page-break-after: always;"} |
|
| 359 | +::: |
|
| 360 | + |
|
| 361 | +### DTX1 - fail (insufficient support) |
|
| 362 | + |
|
| 363 | + |
|
| 364 | + |
|
| 365 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 366 | + |
|
| 367 | +### EIF2C4 - fail (insufficient support) |
|
| 368 | + |
|
| 369 | + |
|
| 370 | + |
|
| 371 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 372 | + |
|
| 373 | +::: {style="page-break-after: always;"} |
|
| 374 | +::: |
|
| 375 | + |
|
| 376 | +### EML2 - fail (insufficient support) |
|
| 377 | + |
|
| 378 | + |
|
| 379 | + |
|
| 380 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 381 | + |
|
| 382 | +### ENTPD3 - fail (insufficient support) |
|
| 383 | + |
|
| 384 | + |
|
| 385 | + |
|
| 386 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 387 | + |
|
| 388 | +::: {style="page-break-after: always;"} |
|
| 389 | +::: |
|
| 390 | + |
|
| 391 | +### EPHB2 - fail (insufficient support) |
|
| 392 | + |
|
| 393 | + |
|
| 394 | + |
|
| 395 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 396 | + |
|
| 397 | +### FAM129B - fail (insufficient support) |
|
| 398 | + |
|
| 399 | + |
|
| 400 | + |
|
| 401 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 402 | + |
|
| 403 | +::: {style="page-break-after: always;"} |
|
| 404 | +::: |
|
| 405 | + |
|
| 406 | +### FGFR3 - fail (insufficient support) |
|
| 407 | + |
|
| 408 | + |
|
| 409 | + |
|
| 410 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 411 | + |
|
| 412 | +### FTCD - fail (germline) |
|
| 413 | + |
|
| 414 | + |
|
| 415 | + |
|
| 416 | +Average rating: Germline |
|
| 417 | + |
|
| 418 | +::: {style="page-break-after: always;"} |
|
| 419 | +::: |
|
| 420 | + |
|
| 421 | +### GRIK5 - fail (insufficient support) |
|
| 422 | + |
|
| 423 | + |
|
| 424 | + |
|
| 425 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 426 | + |
|
| 427 | +### ICK - fail (insufficient support) |
|
| 428 | + |
|
| 429 | + |
|
| 430 | + |
|
| 431 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 432 | + |
|
| 433 | +::: {style="page-break-after: always;"} |
|
| 434 | +::: |
|
| 435 | + |
|
| 436 | +### ITPR3 - fail (insufficient support) |
|
| 437 | + |
|
| 438 | + |
|
| 439 | + |
|
| 440 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 441 | + |
|
| 442 | +### KIFC3 - fail (insufficient support) |
|
| 443 | + |
|
| 444 | + |
|
| 445 | + |
|
| 446 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 447 | + |
|
| 448 | +::: {style="page-break-after: always;"} |
|
| 449 | +::: |
|
| 450 | + |
|
| 451 | +### MAP3K6 - fail (insufficient support) |
|
| 452 | + |
|
| 453 | + |
|
| 454 | + |
|
| 455 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 456 | + |
|
| 457 | +### MYH10 - fail (insufficient support) |
|
| 458 | + |
|
| 459 | + |
|
| 460 | + |
|
| 461 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 462 | + |
|
| 463 | +::: {style="page-break-after: always;"} |
|
| 464 | +::: |
|
| 465 | + |
|
| 466 | +### NOTCH1 - fail (insufficient support) |
|
| 467 | + |
|
| 468 | + |
|
| 469 | + |
|
| 470 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 471 | + |
|
| 472 | +### NRXN2 - fail (insufficient support) |
|
| 473 | + |
|
| 474 | + |
|
| 475 | + |
|
| 476 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 477 | + |
|
| 478 | +::: {style="page-break-after: always;"} |
|
| 479 | +::: |
|
| 480 | + |
|
| 481 | +### PC - fail (insufficient support) |
|
| 482 | + |
|
| 483 | + |
|
| 484 | + |
|
| 485 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 486 | + |
|
| 487 | +### POLRMT - fail (insufficient support) |
|
| 488 | + |
|
| 489 | + |
|
| 490 | + |
|
| 491 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 492 | + |
|
| 493 | +::: {style="page-break-after: always;"} |
|
| 494 | +::: |
|
| 495 | + |
|
| 496 | +### POR - fail (insufficient support) |
|
| 497 | + |
|
| 498 | + |
|
| 499 | + |
|
| 500 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 501 | + |
|
| 502 | +### PRSS22 - fail (insufficient support) |
|
| 503 | + |
|
| 504 | + |
|
| 505 | + |
|
| 506 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 507 | + |
|
| 508 | +::: {style="page-break-after: always;"} |
|
| 509 | +::: |
|
| 510 | + |
|
| 511 | +### PTPRN - fail (insufficient support) |
|
| 512 | + |
|
| 513 | + |
|
| 514 | + |
|
| 515 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 516 | + |
|
| 517 | +### RBP3 - fail (insufficient support) |
|
| 518 | + |
|
| 519 | + |
|
| 520 | + |
|
| 521 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 522 | + |
|
| 523 | +::: {style="page-break-after: always;"} |
|
| 524 | +::: |
|
| 525 | + |
|
| 526 | +### RET - fail (insufficient support) |
|
| 527 | + |
|
| 528 | + |
|
| 529 | + |
|
| 530 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 531 | + |
|
| 532 | +### SALL3 - fail (insufficient support) |
|
| 533 | + |
|
| 534 | + |
|
| 535 | + |
|
| 536 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 537 | + |
|
| 538 | +::: {style="page-break-after: always;"} |
|
| 539 | +::: |
|
| 540 | + |
|
| 541 | +### SAPS2 - fail (insufficient support) |
|
| 542 | + |
|
| 543 | + |
|
| 544 | + |
|
| 545 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 546 | + |
|
| 547 | +### SBF1 - fail (insufficient support) |
|
| 548 | + |
|
| 549 | + |
|
| 550 | + |
|
| 551 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 552 | + |
|
| 553 | +::: {style="page-break-after: always;"} |
|
| 554 | +::: |
|
| 555 | + |
|
| 556 | +### SF3B1 - fail (insufficient support) |
|
| 557 | + |
|
| 558 | + |
|
| 559 | + |
|
| 560 | +Average rating: ★ ★ ★ ★ ☆ |
|
| 561 | + |
|
| 562 | +### SLC29A2 - fail (insufficient support) |
|
| 563 | + |
|
| 564 | + |
|
| 565 | + |
|
| 566 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 567 | + |
|
| 568 | +::: {style="page-break-after: always;"} |
|
| 569 | +::: |
|
| 570 | + |
|
| 571 | +### SHANK1 - fail (insufficient support) |
|
| 572 | + |
|
| 573 | + |
|
| 574 | + |
|
| 575 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 576 | + |
|
| 577 | +### SYNGAP1 - fail (insufficient support) |
|
| 578 | + |
|
| 579 | + |
|
| 580 | + |
|
| 581 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 582 | + |
|
| 583 | +::: {style="page-break-after: always;"} |
|
| 584 | +::: |
|
| 585 | + |
|
| 586 | +### TBC1D9B - fail (insufficient support) |
|
| 587 | + |
|
| 588 | + |
|
| 589 | + |
|
| 590 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 591 | + |
|
| 592 | +### TIGD6 - fail (insufficient support) |
|
| 593 | + |
|
| 594 | + |
|
| 595 | + |
|
| 596 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 597 | + |
|
| 598 | +::: {style="page-break-after: always;"} |
|
| 599 | +::: |
|
| 600 | + |
|
| 601 | +### TPST2 - fail (insufficient support) |
|
| 602 | + |
|
| 603 | + |
|
| 604 | + |
|
| 605 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 606 | + |
|
| 607 | +### ZNF229 - fail (germline) |
|
| 608 | + |
|
| 609 | + |
|
| 610 | + |
|
| 611 | +Average rating: Germline |
|
| 612 | + |
|
| 613 | +::: {style="page-break-after: always;"} |
|
| 614 | +::: |
|
| 615 | + |
|
| 616 | +### Reddy *et al*, 2017 `<a name="reddy">`{=html}`</a>`{=html} |
|
| 617 | + |
|
| 618 | +*See also:* [IGV |
|
| 619 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/) |
|
| 620 | + |
|
| 621 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 622 | + ------------- ------- ----------------- ------------ -------- -------- ---------- |
|
| 623 | + Exome 400 601 0 13 28 26 (39%) |
|
| 624 | + |
|
| 625 | +### ARID5B - pass |
|
| 626 | + |
|
| 627 | + |
|
| 628 | + |
|
| 629 | +Average rating: ★ ★ ★ ★ ☆ |
|
| 630 | + |
|
| 631 | +### ARID1B - fail (insufficient support) |
|
| 632 | + |
|
| 633 | + |
|
| 634 | + |
|
| 635 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 636 | + |
|
| 637 | +::: {style="page-break-after: always;"} |
|
| 638 | +::: |
|
| 639 | + |
|
| 640 | +### CBLB - fail (insufficient support) |
|
| 641 | + |
|
| 642 | + |
|
| 643 | + |
|
| 644 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 645 | + |
|
| 646 | +::: {style="page-break-after: always;"} |
|
| 647 | +::: |
|
| 648 | + |
|
| 649 | +### CDC73 - fail (insufficient support) |
|
| 650 | + |
|
| 651 | + |
|
| 652 | + |
|
| 653 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 654 | + |
|
| 655 | +### CHD8 - fail (insufficient support) |
|
| 656 | + |
|
| 657 | + |
|
| 658 | + |
|
| 659 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 660 | + |
|
| 661 | +::: {style="page-break-after: always;"} |
|
| 662 | +::: |
|
| 663 | + |
|
| 664 | +### CHD1 - fail (insufficient support) |
|
| 665 | + |
|
| 666 | + |
|
| 667 | + |
|
| 668 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 669 | + |
|
| 670 | +::: {style="page-break-after: always;"} |
|
| 671 | +::: |
|
| 672 | + |
|
| 673 | +### CHST2 - fail (insufficient support) |
|
| 674 | + |
|
| 675 | + |
|
| 676 | + |
|
| 677 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 678 | + |
|
| 679 | +::: {style="page-break-after: always;"} |
|
| 680 | +::: |
|
| 681 | + |
|
| 682 | +### DCAF6 - fail (insufficient support) |
|
| 683 | + |
|
| 684 | + |
|
| 685 | + |
|
| 686 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 687 | + |
|
| 688 | +::: {style="page-break-after: always;"} |
|
| 689 | +::: |
|
| 690 | + |
|
| 691 | +### DICER1 - fail (insufficient support) |
|
| 692 | + |
|
| 693 | + |
|
| 694 | + |
|
| 695 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 696 | + |
|
| 697 | +::: {style="page-break-after: always;"} |
|
| 698 | +::: |
|
| 699 | + |
|
| 700 | +### DNMT3A - fail (insufficient support) |
|
| 701 | + |
|
| 702 | + |
|
| 703 | + |
|
| 704 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 705 | + |
|
| 706 | +::: {style="page-break-after: always;"} |
|
| 707 | +::: |
|
| 708 | + |
|
| 709 | +### GNAS - fail (insufficient support) |
|
| 710 | + |
|
| 711 | + |
|
| 712 | + |
|
| 713 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 714 | + |
|
| 715 | +::: {style="page-break-after: always;"} |
|
| 716 | +::: |
|
| 717 | + |
|
| 718 | +### HRAS - fail (insufficient support) |
|
| 719 | + |
|
| 720 | + |
|
| 721 | + |
|
| 722 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 723 | + |
|
| 724 | +::: {style="page-break-after: always;"} |
|
| 725 | +::: |
|
| 726 | + |
|
| 727 | +### LIN54 - fail (insufficient support) |
|
| 728 | + |
|
| 729 | + |
|
| 730 | + |
|
| 731 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 732 | + |
|
| 733 | +::: {style="page-break-after: always;"} |
|
| 734 | +::: |
|
| 735 | + |
|
| 736 | +### MAP4K4 - fail (insufficient support) |
|
| 737 | + |
|
| 738 | + |
|
| 739 | + |
|
| 740 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 741 | + |
|
| 742 | +::: {style="page-break-after: always;"} |
|
| 743 | +::: |
|
| 744 | + |
|
| 745 | +### MARK1 - fail (insufficient support) |
|
| 746 | + |
|
| 747 | + |
|
| 748 | + |
|
| 749 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 750 | + |
|
| 751 | +::: {style="page-break-after: always;"} |
|
| 752 | +::: |
|
| 753 | + |
|
| 754 | +### MSH2 - fail (insufficient support) |
|
| 755 | + |
|
| 756 | + |
|
| 757 | + |
|
| 758 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 759 | + |
|
| 760 | +::: {style="page-break-after: always;"} |
|
| 761 | +::: |
|
| 762 | + |
|
| 763 | +### MYB - fail (insufficient support) |
|
| 764 | + |
|
| 765 | + |
|
| 766 | + |
|
| 767 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 768 | + |
|
| 769 | +::: {style="page-break-after: always;"} |
|
| 770 | +::: |
|
| 771 | + |
|
| 772 | +### NCOR1 - fail (insufficient support) |
|
| 773 | + |
|
| 774 | + |
|
| 775 | + |
|
| 776 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 777 | + |
|
| 778 | +::: {style="page-break-after: always;"} |
|
| 779 | +::: |
|
| 780 | + |
|
| 781 | +### NFKB2 - fail (insufficient support) |
|
| 782 | + |
|
| 783 | + |
|
| 784 | + |
|
| 785 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 786 | + |
|
| 787 | +::: {style="page-break-after: always;"} |
|
| 788 | +::: |
|
| 789 | + |
|
| 790 | +### PHF6 - fail (insufficient support) |
|
| 791 | + |
|
| 792 | + |
|
| 793 | + |
|
| 794 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 795 | + |
|
| 796 | +::: {style="page-break-after: always;"} |
|
| 797 | +::: |
|
| 798 | + |
|
| 799 | +### PTPRK - fail (insufficient support) |
|
| 800 | + |
|
| 801 | + |
|
| 802 | + |
|
| 803 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 804 | + |
|
| 805 | +::: {style="page-break-after: always;"} |
|
| 806 | +::: |
|
| 807 | + |
|
| 808 | +### RARA - fail (insufficient support) |
|
| 809 | + |
|
| 810 | + |
|
| 811 | + |
|
| 812 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 813 | + |
|
| 814 | +::: {style="page-break-after: always;"} |
|
| 815 | +::: |
|
| 816 | + |
|
| 817 | +### RUNX1 - fail (insufficient support) |
|
| 818 | + |
|
| 819 | + |
|
| 820 | + |
|
| 821 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 822 | + |
|
| 823 | +::: {style="page-break-after: always;"} |
|
| 824 | +::: |
|
| 825 | + |
|
| 826 | +### SYK - fail (insufficient support) |
|
| 827 | + |
|
| 828 | + |
|
| 829 | + |
|
| 830 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 831 | + |
|
| 832 | +::: {style="page-break-after: always;"} |
|
| 833 | +::: |
|
| 834 | + |
|
| 835 | +### WAC - fail (insufficient support) |
|
| 836 | + |
|
| 837 | + |
|
| 838 | + |
|
| 839 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 840 | + |
|
| 841 | +::: {style="page-break-after: always;"} |
|
| 842 | +::: |
|
| 843 | + |
|
| 844 | +### ZBTB7A - fail (insufficient support) |
|
| 845 | + |
|
| 846 | + |
|
| 847 | + |
|
| 848 | +Average rating: ★ ☆ ☆ ☆ ☆ |
|
| 849 | + |
|
| 850 | +::: {style="page-break-after: always;"} |
|
| 851 | +::: |
|
| 852 | + |
|
| 853 | +### ZFAT - fail (insufficient support) |
|
| 854 | + |
|
| 855 | + |
|
| 856 | + |
|
| 857 | +Average rating: ★ ★ ☆ ☆ ☆ |
|
| 858 | + |
|
| 859 | +::: {style="page-break-after: always;"} |
|
| 860 | +::: |
|
| 861 | + |
|
| 862 | +### [Morin *et al*, 2013](https://ashpublications.org/blood/article/122/7/1256/32425/Mutational-and-structural-analysis-of-diffuse) `<a name="morin">`{=html}`</a>`{=html} |
|
| 863 | + |
|
| 864 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 865 | + ------------- ------- ----------------- ------------ -------- -------- --------- |
|
| 866 | + WGS 40 0 13 9 23 7 (18%) |
|
| 867 | + |
|
| 868 | +*See also:* [IGV |
|
| 869 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Morin_2013/) |
|
| 870 | + |
|
| 871 | +### HDAC7 - pass |
|
| 872 | + |
|
| 873 | + |
|
| 874 | + |
|
| 875 | +Average rating: ★ ★ ★ ☆ ☆ |
|
| 876 | + |
|
| 877 | +::: {style="page-break-after: always;"} |
|
| 878 | +::: |
|
| 879 | + |
|
| 880 | +### FAM38B - fail (insufficient support) |
|
| 881 | + |
|
| 882 | + |
|
| 883 | + |
|
| 884 | +::: {style="page-break-after: always;"} |
|
| 885 | +::: |
|
| 886 | + |
|
| 887 | +### FNDC1 - fail (insufficient support) |
|
| 888 | + |
|
| 889 | + |
|
| 890 | + |
|
| 891 | +::: {style="page-break-after: always;"} |
|
| 892 | +::: |
|
| 893 | + |
|
| 894 | +### IER2 - fail (insufficient support) |
|
| 895 | + |
|
| 896 | + |
|
| 897 | + |
|
| 898 | +::: {style="page-break-after: always;"} |
|
| 899 | +::: |
|
| 900 | + |
|
| 901 | +### PKD1 - fail (insufficient support) |
|
| 902 | + |
|
| 903 | + |
|
| 904 | + |
|
| 905 | +::: {style="page-break-after: always;"} |
|
| 906 | +::: |
|
| 907 | + |
|
| 908 | +### POGZ - fail (insufficient support) |
|
| 909 | + |
|
| 910 | + |
|
| 911 | + |
|
| 912 | +::: {style="page-break-after: always;"} |
|
| 913 | +::: |
|
| 914 | + |
|
| 915 | +### PTPN23 - fail (insufficient support) |
|
| 916 | + |
|
| 917 | + |
|
| 918 | + |
|
| 919 | +::: {style="page-break-after: always;"} |
|
| 920 | +::: |
|
| 921 | + |
|
| 922 | +### SARM1 - fail (insufficient support) |
|
| 923 | + |
|
| 924 | + |
|
| 925 | + |
|
| 926 | +::: {style="page-break-after: always;"} |
|
| 927 | +::: |
|
| 928 | + |
|
| 929 | +### Panea *et al*, 2019 `<a name="panea">`{=html}`</a>`{=html} |
|
| 930 | + |
|
| 931 | +*See also:* [IGV |
|
| 932 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Panea/) |
|
| 933 | + |
|
| 934 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 935 | + ------------- ------- ----------------- ------------ -------- -------- ---------- |
|
| 936 | + WGS 101 0 0 2 15 22 (56%) |
|
| 937 | + |
|
| 938 | +### CXCR4 - pass |
|
| 939 | + |
|
| 940 | + |
|
| 941 | + |
|
| 942 | +### ALPK2 - fail (insufficient support) |
|
| 943 | + |
|
| 944 | + |
|
| 945 | + |
|
| 946 | +::: {style="page-break-after: always;"} |
|
| 947 | +::: |
|
| 948 | + |
|
| 949 | +### CD79B - fail (insufficient support, RNA-only) |
|
| 950 | + |
|
| 951 | + |
|
| 952 | + |
|
| 953 | +### CTCF - fail (insufficient support) |
|
| 954 | + |
|
| 955 | + |
|
| 956 | + |
|
| 957 | +::: {style="page-break-after: always;"} |
|
| 958 | +::: |
|
| 959 | + |
|
| 960 | +### DNMT1 - fail (insufficient support) |
|
| 961 | + |
|
| 962 | + |
|
| 963 | + |
|
| 964 | +### ETS1 - fail (insufficient support, RNA-only) |
|
| 965 | + |
|
| 966 | + |
|
| 967 | + |
|
| 968 | +::: {style="page-break-after: always;"} |
|
| 969 | +::: |
|
| 970 | + |
|
| 971 | +### FZD3 - fail (insufficient support) |
|
| 972 | + |
|
| 973 | + |
|
| 974 | + |
|
| 975 | +::: {style="page-break-after: always;"} |
|
| 976 | +::: |
|
| 977 | + |
|
| 978 | +### HIST1H1C - fail (insufficient support) |
|
| 979 | + |
|
| 980 | + |
|
| 981 | + |
|
| 982 | +::: {style="page-break-after: always;"} |
|
| 983 | +::: |
|
| 984 | + |
|
| 985 | +### HIST1H2AG - fail (insufficient support) |
|
| 986 | + |
|
| 987 | + |
|
| 988 | + |
|
| 989 | +### HIST1H2AM - fail (insufficient support, RNA-only) |
|
| 990 | + |
|
| 991 | + |
|
| 992 | + |
|
| 993 | +::: {style="page-break-after: always;"} |
|
| 994 | +::: |
|
| 995 | + |
|
| 996 | +### HIST1H2BK - fail (insufficient support) |
|
| 997 | + |
|
| 998 | + |
|
| 999 | + |
|
| 1000 | +### HIST1H3H - fail (insufficient support) |
|
| 1001 | + |
|
| 1002 | + |
|
| 1003 | + |
|
| 1004 | +::: {style="page-break-after: always;"} |
|
| 1005 | +::: |
|
| 1006 | + |
|
| 1007 | +### HIST1H3J - fail (insufficient support) |
|
| 1008 | + |
|
| 1009 | + |
|
| 1010 | + |
|
| 1011 | +### KCNK10 - fail (insufficient support) |
|
| 1012 | + |
|
| 1013 | + |
|
| 1014 | + |
|
| 1015 | +### MME - fail (insufficient support) |
|
| 1016 | + |
|
| 1017 | + |
|
| 1018 | + |
|
| 1019 | +::: {style="page-break-after: always;"} |
|
| 1020 | +::: |
|
| 1021 | + |
|
| 1022 | +### MTOR - fail (insufficient support) |
|
| 1023 | + |
|
| 1024 | + |
|
| 1025 | + |
|
| 1026 | +### PABPC4L - fail (insufficient support) |
|
| 1027 | + |
|
| 1028 | + |
|
| 1029 | + |
|
| 1030 | +### PCDHA11 - fail (insufficient support) |
|
| 1031 | + |
|
| 1032 | + |
|
| 1033 | + |
|
| 1034 | +### PDZRN3 - fail (insufficient support) |
|
| 1035 | + |
|
| 1036 | + |
|
| 1037 | + |
|
| 1038 | +::: {style="page-break-after: always;"} |
|
| 1039 | +::: |
|
| 1040 | + |
|
| 1041 | +### PIK3R1 - fail (insufficient support) |
|
| 1042 | + |
|
| 1043 | + |
|
| 1044 | + |
|
| 1045 | +### PXDNL - fail (insufficient support) |
|
| 1046 | + |
|
| 1047 | + |
|
| 1048 | + |
|
| 1049 | +### SNTB2 - fail (insufficient support) |
|
| 1050 | + |
|
| 1051 | + |
|
| 1052 | + |
|
| 1053 | +::: {style="page-break-after: always;"} |
|
| 1054 | +::: |
|
| 1055 | + |
|
| 1056 | +### WDR7 - fail (insufficient support) |
|
| 1057 | + |
|
| 1058 | + |
|
| 1059 | + |
|
| 1060 | +::: {style="page-break-after: always;"} |
|
| 1061 | +::: |
|
| 1062 | + |
|
| 1063 | +### Chapuy *et al*, 2018 `<a name="chapuy">`{=html}`</a>`{=html} |
|
| 1064 | + |
|
| 1065 | +*See also:* [IGV |
|
| 1066 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Chapuy_2018/) |
|
| 1067 | + |
|
| 1068 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 1069 | + ------------- ------- ----------------- ------------ -------- -------- -------- |
|
| 1070 | + Exome 137 167 0 10 13 6(21%) |
|
| 1071 | + |
|
| 1072 | +### DOCK1 - pass |
|
| 1073 | + |
|
| 1074 | + |
|
| 1075 | + |
|
| 1076 | +::: {style="page-break-after: always;"} |
|
| 1077 | +::: |
|
| 1078 | + |
|
| 1079 | +### FUT5 - fail (insufficient support) |
|
| 1080 | + |
|
| 1081 | + |
|
| 1082 | + |
|
| 1083 | +::: {style="page-break-after: always;"} |
|
| 1084 | +::: |
|
| 1085 | + |
|
| 1086 | +### NLRP8 - fail (insufficient support) |
|
| 1087 | + |
|
| 1088 | + |
|
| 1089 | + |
|
| 1090 | +::: {style="page-break-after: always;"} |
|
| 1091 | +::: |
|
| 1092 | + |
|
| 1093 | +### PDE4DIP - fail (insufficient support) |
|
| 1094 | + |
|
| 1095 | + |
|
| 1096 | + |
|
| 1097 | +::: {style="page-break-after: always;"} |
|
| 1098 | +::: |
|
| 1099 | + |
|
| 1100 | +### Hübschmann *et al*, 2021 `<a name="icgc">`{=html}`</a>`{=html} |
|
| 1101 | + |
|
| 1102 | +*See also:* [IGV |
|
| 1103 | +reports](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/) |
|
| 1104 | + |
|
| 1105 | + Methodology Pairs Unpaired tumors Cell lines Tier 1 Tier 2 Tier 3 |
|
| 1106 | + ------------- ------- ----------------- ------------ -------- -------- ---------- |
|
| 1107 | + WGS 179 2 0 5 31 3 (7.7%) |
|
| 1108 | + |
|
| 1109 | +### IKBKE - pass |
|
| 1110 | + |
|
| 1111 | + |
|
| 1112 | + |
|
| 1113 | +::: {style="page-break-after: always;"} |
|
| 1114 | +::: |
|
| 1115 | + |
|
| 1116 | +### GAK - fail (insufficient support) |
|
| 1117 | + |
|
| 1118 | + |
|
| 1119 | + |
|
| 1120 | +::: {style="page-break-after: always;"} |
|
| 1121 | +::: |
|
| 1122 | + |
|
| 1123 | +### HLA-DQA1 - fail (insufficient support) |
|
| 1124 | + |
|
| 1125 | + |
|
| 1126 | + |
|
| 1127 | +::: {style="page-break-after: always;"} |
|
| 1128 | +::: |
|
| 1129 | + |
|
| 1130 | +### NR2F2 - fail (insufficient support) |
|
| 1131 | + |
|
| 1132 | + |
|
| 1133 | + |
|
| 1134 | +::: {style="page-break-after: always;"} |
|
| 1135 | +::: |
|
| 1136 | + |
|
| 1137 | +## References {#references .unnumbered} |
|
| 1138 | + |
|
| 1139 | +:::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::: {#refs .references .csl-bib-body} |
|
| 1140 | +::: {#ref-albuquerqueEnhancingKnowledgeDiscovery2017 .csl-entry} |
|
| 1141 | +[1. ]{.csl-left-margin}[Albuquerque MA, Grande BM, Ritch EJ, |
|
| 1142 | +Pararajalingam P, Jessa S, Krzywinski M, Grewal JK, Shah SP, Boutros PC, |
|
| 1143 | +Morin RD. Enhancing knowledge discovery from cancer genomics data with |
|
| 1144 | +Galaxy. Gigascience. 2017 May 1;6(5):1--13. PMCID: |
|
| 1145 | +[PMC5437943](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437943)]{.csl-right-inline} |
|
| 1146 | +::: |
|
| 1147 | + |
|
| 1148 | +::: {#ref-arthurGenomewideDiscoverySomatic2018 .csl-entry} |
|
| 1149 | +[2. ]{.csl-left-margin}[Arthur SE, Jiang A, Grande BM, Alcaide M, |
|
| 1150 | +Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, |
|
| 1151 | +Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, |
|
| 1152 | +Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, |
|
| 1153 | +Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, |
|
| 1154 | +Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide |
|
| 1155 | +discovery of somatic regulatory variants in diffuse large |
|
| 1156 | +[B-cell]{.nocase} lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: |
|
| 1157 | +[PMC6167379](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167379)]{.csl-right-inline} |
|
| 1158 | +::: |
|
| 1159 | + |
|
| 1160 | +::: {#ref-bohleRoleEarlyBcell2013 .csl-entry} |
|
| 1161 | +[3. ]{.csl-left-margin}[Bohle V, Döring C, Hansmann M-L, Küppers R. |
|
| 1162 | +[Role of early [B-cell]{.nocase} factor 1 (EBF1) in Hodgkin |
|
| 1163 | +lymphoma](https://doi.org/10.1038/leu.2012.280). Leukemia. 2013 |
|
| 1164 | +Mar;27(3):671--679. ]{.csl-right-inline} |
|
| 1165 | +::: |
|
| 1166 | + |
|
| 1167 | +::: {#ref-chapuyMolecularSubtypesDiffuse2018 .csl-entry} |
|
| 1168 | +[4. ]{.csl-left-margin}[Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov |
|
| 1169 | +A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala |
|
| 1170 | +JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, |
|
| 1171 | +Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, |
|
| 1172 | +Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, |
|
| 1173 | +Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, |
|
| 1174 | +Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, |
|
| 1175 | +Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of |
|
| 1176 | +diffuse large B cell lymphoma are associated with distinct pathogenic |
|
| 1177 | +mechanisms and outcomes. Nat Med. 2018 May;24(5):679--690. PMCID: |
|
| 1178 | +[PMC6613387](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613387)]{.csl-right-inline} |
|
| 1179 | +::: |
|
| 1180 | + |
|
| 1181 | +::: {#ref-compagnoMutationsMultipleGenes2009 .csl-entry} |
|
| 1182 | +[5. ]{.csl-left-margin}[Compagno M, Lim WK, Grunn A, Nandula SV, |
|
| 1183 | +Brahmachary M, Shen Q, Bertoni F, Ponzoni M, Scandurra M, Califano A, |
|
| 1184 | +Bhagat G, Chadburn A, Dalla-Favera R, Pasqualucci L. Mutations of |
|
| 1185 | +multiple genes cause deregulation of [NF-kappaB]{.nocase} in diffuse |
|
| 1186 | +large [B-cell]{.nocase} lymphoma. Nature. 2009 Jun 4;459(7247):717--721. |
|
| 1187 | +PMCID: |
|
| 1188 | +[PMC2973325](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2973325)]{.csl-right-inline} |
|
| 1189 | +::: |
|
| 1190 | + |
|
| 1191 | +::: {#ref-davisChronicActiveBcellreceptor2010 .csl-entry} |
|
| 1192 | +[6. ]{.csl-left-margin}[Davis RE, Ngo VN, Lenz G, Tolar P, Young RM, |
|
| 1193 | +Romesser PB, Kohlhammer H, Lamy L, Zhao H, Yang Y, Xu W, Shaffer AL, |
|
| 1194 | +Wright G, Xiao W, Powell J, Jiang JK, Thomas CJ, Rosenwald A, Ott G, |
|
| 1195 | +Müller-Hermelink HK, Gascoyne RD, Connors JM, Johnson NA, Rimsza LM, |
|
| 1196 | +Campo E, Jaffe ES, Wilson WH, Delabie J, Smeland EB, Fisher RI, Braziel |
|
| 1197 | +RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pierce SK, Staudt LM. |
|
| 1198 | +Chronic active [B-cell-receptor]{.nocase} signalling in diffuse large |
|
| 1199 | +[B-cell]{.nocase} lymphoma. Nature. 2010 Jan;463(7277):88--92. PMCID: |
|
| 1200 | +[PMC2845535](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845535)]{.csl-right-inline} |
|
| 1201 | +::: |
|
| 1202 | + |
|
| 1203 | +::: {#ref-drevalGeneticSubdivisionsFollicular2023 .csl-entry} |
|
| 1204 | +[7. ]{.csl-left-margin}[Dreval K, Hilton LK, Cruz M, Shaalan H, |
|
| 1205 | +Ben-Neriah S, Boyle M, Collinge B, Coyle KM, Duns G, Farinha P, Grande |
|
| 1206 | +BM, Meissner B, Pararajalingam P, Rushton CK, Slack GW, Wong J, Mungall |
|
| 1207 | +AJ, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genetic |
|
| 1208 | +subdivisions of follicular lymphoma defined by distinct coding and |
|
| 1209 | +noncoding mutation patterns. Blood. 2023 Aug 10;142(6):561--573. PMCID: |
|
| 1210 | +[PMC10644066](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644066)]{.csl-right-inline} |
|
| 1211 | +::: |
|
| 1212 | + |
|
| 1213 | +::: {#ref-dunsCharacterizationDLBCLPMBL2021 .csl-entry} |
|
| 1214 | +[8. ]{.csl-left-margin}[Duns G, Viganò E, Ennishi D, Sarkozy C, Hung SS, |
|
| 1215 | +Chavez E, Takata K, Rushton C, Jiang A, Ben-Neriah S, Woolcock BW, Slack |
|
| 1216 | +GW, Hsi ED, Craig JW, Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne |
|
| 1217 | +RD, Morin RD, Savage KJ, Scott DW, Steidl C. [Characterization of DLBCL |
|
| 1218 | +with a PMBL gene expression |
|
| 1219 | +signature](https://doi.org/10.1182/blood.2020007683). Blood. 2021 Jul |
|
| 1220 | +15;138(2):136--148. ]{.csl-right-inline} |
|
| 1221 | +::: |
|
| 1222 | + |
|
| 1223 | +::: {#ref-fanComprehensiveCharacterizationDriver2020 .csl-entry} |
|
| 1224 | +[9. ]{.csl-left-margin}[Fan Z, Pei R, Sha K, Chen L, Wang T, Lu Y. |
|
| 1225 | +Comprehensive characterization of driver genes in diffuse large B cell |
|
| 1226 | +lymphoma. Oncol Lett. 2020 Jul;20(1):382--390. PMCID: |
|
| 1227 | +[PMC7285964](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285964)]{.csl-right-inline} |
|
| 1228 | +::: |
|
| 1229 | + |
|
| 1230 | +::: {#ref-hubschmannMutationalMechanismsShaping2021 .csl-entry} |
|
| 1231 | +[10. ]{.csl-left-margin}[Hübschmann D, Kleinheinz K, Wagener R, Bernhart |
|
| 1232 | +SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, |
|
| 1233 | +Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann |
|
| 1234 | +AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo |
|
| 1235 | +de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann |
|
| 1236 | +ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, |
|
| 1237 | +Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, |
|
| 1238 | +Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, |
|
| 1239 | +Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero |
|
| 1240 | +JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, |
|
| 1241 | +Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, |
|
| 1242 | +Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining |
|
| 1243 | +consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. |
|
| 1244 | +Mutational mechanisms shaping the coding and noncoding genome of |
|
| 1245 | +germinal center derived [B-cell]{.nocase} lymphomas. Leukemia. 2021 |
|
| 1246 | +Jul;35(7):2002--2016. PMCID: |
|
| 1247 | +[PMC8257491](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257491)]{.csl-right-inline} |
|
| 1248 | +::: |
|
| 1249 | + |
|
| 1250 | +::: {#ref-khodabakhshiRecurrentTargetsAberrant2012 .csl-entry} |
|
| 1251 | +[11. ]{.csl-left-margin}[Khodabakhshi AH, Morin RD, Fejes AP, Mungall |
|
| 1252 | +AJ, Mungall KL, Bolger-Munro M, Johnson NA, Connors JM, Gascoyne RD, |
|
| 1253 | +Marra MA, Birol I, Jones SJM. Recurrent targets of aberrant somatic |
|
| 1254 | +hypermutation in lymphoma. Oncotarget. 2012;3(11):1308--1319. PMCID: |
|
| 1255 | +[PMC3717795](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717795)]{.csl-right-inline} |
|
| 1256 | +::: |
|
| 1257 | + |
|
| 1258 | +::: {#ref-kwanhianMicroRNA142Mutated202012 .csl-entry} |
|
| 1259 | +[12. ]{.csl-left-margin}[Kwanhian W, Lenze D, Alles J, Motsch N, Barth |
|
| 1260 | +S, Döll C, Imig J, Hummel M, Tinguely M, Trivedi P, Lulitanond V, |
|
| 1261 | +Meister G, Renner C, Grässer FA. MicroRNA-142 is mutated in about 20% of |
|
| 1262 | +diffuse large [B-cell]{.nocase} lymphoma. Cancer Med. 2012 |
|
| 1263 | +Oct;1(2):141--155. PMCID: |
|
| 1264 | +[PMC3544448](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544448)]{.csl-right-inline} |
|
| 1265 | +::: |
|
| 1266 | + |
|
| 1267 | +::: {#ref-lenzOncogenicCARD11Mutations2008 .csl-entry} |
|
| 1268 | +[13. ]{.csl-left-margin}[Lenz G, Davis RE, Ngo VN, Lam L, George TC, |
|
| 1269 | +Wright GW, Dave SS, Zhao H, Xu W, Rosenwald A, Ott G, Müller-Hermelink |
|
| 1270 | +HK, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, |
|
| 1271 | +Smeland EB, Fisher RI, Chan WC, Staudt LM. [Oncogenic CARD11 mutations |
|
| 1272 | +in human diffuse large B cell |
|
| 1273 | +lymphoma.](https://doi.org/10.1126/science.1153629) Science. 2008 |
|
| 1274 | +Mar;319(5870):1676--1679. ]{.csl-right-inline} |
|
| 1275 | +::: |
|
| 1276 | + |
|
| 1277 | +::: {#ref-lohrDiscoveryPrioritizationSomatic2012 .csl-entry} |
|
| 1278 | +[14. ]{.csl-left-margin}[Lohr JG, Stojanov P, Lawrence MS, Auclair D, |
|
| 1279 | +Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, |
|
| 1280 | +Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, |
|
| 1281 | +Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, |
|
| 1282 | +Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, |
|
| 1283 | +Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, |
|
| 1284 | +Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and |
|
| 1285 | +prioritization of somatic mutations in diffuse large [B-cell]{.nocase} |
|
| 1286 | +lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. |
|
| 1287 | +2012 Mar 6;109(10):3879--3884. PMCID: |
|
| 1288 | +[PMC3309757](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309757)]{.csl-right-inline} |
|
| 1289 | +::: |
|
| 1290 | + |
|
| 1291 | +::: {#ref-mareschalWholeExomeSequencing2016 .csl-entry} |
|
| 1292 | +[15. ]{.csl-left-margin}[Mareschal S, Dubois S, Viailly PJ, Bertrand P, |
|
| 1293 | +Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, |
|
| 1294 | +Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, |
|
| 1295 | +Lecroq T, Leroy K, Jardin F. [Whole exome sequencing of |
|
| 1296 | +relapsed/refractory patients expands the repertoire of somatic mutations |
|
| 1297 | +in diffuse large [B-cell]{.nocase} |
|
| 1298 | +lymphoma](https://doi.org/10.1002/gcc.22328). Genes Chromosomes Cancer. |
|
| 1299 | +2016 Mar;55(3):251--267. ]{.csl-right-inline} |
|
| 1300 | +::: |
|
| 1301 | + |
|
| 1302 | +::: {#ref-morinFrequentMutationHistonemodifying2011 .csl-entry} |
|
| 1303 | +[16. ]{.csl-left-margin}[Morin RD, Mendez-Lago M, Mungall AJ, Goya R, |
|
| 1304 | +Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, |
|
| 1305 | +Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme |
|
| 1306 | +MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus |
|
| 1307 | +D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, |
|
| 1308 | +Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao |
|
| 1309 | +Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, |
|
| 1310 | +Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra |
|
| 1311 | +MA. Frequent mutation of histone-modifying genes in non-Hodgkin |
|
| 1312 | +lymphoma. Nature. 2011 Jul 27;476(7360):298--303. PMCID: |
|
| 1313 | +[PMC3210554](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210554)]{.csl-right-inline} |
|
| 1314 | +::: |
|
| 1315 | + |
|
| 1316 | +::: {#ref-morinGeneticLandscapesRelapsed2016 .csl-entry} |
|
| 1317 | +[17. ]{.csl-left-margin}[Morin RD, Assouline S, Alcaide M, Mohajeri A, |
|
| 1318 | +Johnston RL, Chong L, Grewal J, Yu S, Fornika D, Bushell K, Nielsen TH, |
|
| 1319 | +Petrogiannis-Haliotis T, Crump M, Tosikyan A, Grande BM, MacDonald D, |
|
| 1320 | +Rousseau C, Bayat M, Sesques P, Froment R, Albuquerque M, Monczak Y, |
|
| 1321 | +Oros KK, Greenwood C, Riazalhosseini Y, Arseneault M, Camlioglu E, |
|
| 1322 | +Constantin A, Pan-Hammarstrom Q, Peng R, Mann KK, Johnson NA. [Genetic |
|
| 1323 | +Landscapes of Relapsed and Refractory Diffuse Large B-Cell |
|
| 1324 | +Lymphomas](https://doi.org/10.1158/1078-0432.CCR-15-2123). Clin Cancer |
|
| 1325 | +Res. 2016 May 1;22(9):2290--2300. ]{.csl-right-inline} |
|
| 1326 | +::: |
|
| 1327 | + |
|
| 1328 | +::: {#ref-morinMutationalStructuralAnalysis2013 .csl-entry} |
|
| 1329 | +[18. ]{.csl-left-margin}[Morin RD, Mungall K, Pleasance E, Mungall AJ, |
|
| 1330 | +Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, |
|
| 1331 | +Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, |
|
| 1332 | +Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, |
|
| 1333 | +Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors |
|
| 1334 | +JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse |
|
| 1335 | +large [B-cell]{.nocase} lymphoma using whole-genome sequencing. Blood. |
|
| 1336 | +2013 Aug 15;122(7):1256--1265. PMCID: |
|
| 1337 | +[PMC3744992](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744992)]{.csl-right-inline} |
|
| 1338 | +::: |
|
| 1339 | + |
|
| 1340 | +::: {#ref-morinSomaticMutationsAltering2010 .csl-entry} |
|
| 1341 | +[19. ]{.csl-left-margin}[Morin RD, Johnson NA, Severson TM, Mungall AJ, |
|
| 1342 | +An J, Goya R, Paul JE, Boyle M, Woolcock BW, Kuchenbauer F, Yap D, |
|
| 1343 | +Humphries RK, Griffith OL, Shah S, Zhu H, Kimbara M, Shashkin P, Charlot |
|
| 1344 | +JF, Tcherpakov M, Corbett R, Tam A, Varhol R, Smailus D, Moksa M, Zhao |
|
| 1345 | +Y, Delaney A, Qian H, Birol I, Schein J, Moore R, Holt R, Horsman DE, |
|
| 1346 | +Connors JM, Jones S, Aparicio S, Hirst M, Gascoyne RD, Marra MA. Somatic |
|
| 1347 | +mutations altering EZH2 (Tyr641) in follicular and diffuse large |
|
| 1348 | +[B-cell]{.nocase} lymphomas of germinal-center origin. Nat Genet. 2010 |
|
| 1349 | +Feb;42(2):181--185. PMCID: |
|
| 1350 | +[PMC2850970](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850970)]{.csl-right-inline} |
|
| 1351 | +::: |
|
| 1352 | + |
|
| 1353 | +::: {#ref-ngoOncogenicallyActiveMYD882011 .csl-entry} |
|
| 1354 | +[20. ]{.csl-left-margin}[Ngo VN, Young RM, Schmitz R, Jhavar S, Xiao W, |
|
| 1355 | +Lim KH, Kohlhammer H, Xu W, Yang Y, Zhao H, Shaffer AL, Romesser P, |
|
| 1356 | +Wright G, Powell J, Rosenwald A, Muller-Hermelink HK, Ott G, Gascoyne |
|
| 1357 | +RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, |
|
| 1358 | +Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, |
|
| 1359 | +Staudt LM. Oncogenically active MYD88 mutations in human lymphoma. |
|
| 1360 | +Nature. 2011 Feb 3;470(7332):115--119. PMCID: |
|
| 1361 | +[PMC5024568](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024568)]{.csl-right-inline} |
|
| 1362 | +::: |
|
| 1363 | + |
|
| 1364 | +::: {#ref-novakWholeexomeAnalysisReveals2015 .csl-entry} |
|
| 1365 | +[21. ]{.csl-left-margin}[Novak AJ, Asmann YW, Maurer MJ, Wang C, Slager |
|
| 1366 | +SL, Hodge LS, Manske M, Price-Troska T, Yang Z-Z, Zimmermann MT, |
|
| 1367 | +Nowakowski GS, Ansell SM, Witzig TE, McPhail E, Ketterling R, Feldman |
|
| 1368 | +AL, Dogan A, Link BK, Habermann TM, Cerhan JR. Whole-exome analysis |
|
| 1369 | +reveals novel somatic genomic alterations associated with outcome in |
|
| 1370 | +immunochemotherapy-treated diffuse large B-cell lymphoma. Blood Cancer |
|
| 1371 | +Journal \[Internet\]. 2015 Aug \[cited 2024 Nov 15\];5(8):e346--e346. |
|
| 1372 | +Available from: |
|
| 1373 | +<https://www.nature.com/articles/bcj201569>]{.csl-right-inline} |
|
| 1374 | +::: |
|
| 1375 | + |
|
| 1376 | +::: {#ref-okosunRecurrentMTORC1activatingRRAGC2016 .csl-entry} |
|
| 1377 | +[22. ]{.csl-left-margin}[Okosun J, Wolfson RL, Wang J, Araf S, Wilkins |
|
| 1378 | +L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart |
|
| 1379 | +SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, |
|
| 1380 | +Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham |
|
| 1381 | +G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, |
|
| 1382 | +Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. |
|
| 1383 | +Recurrent [mTORC1-activating RRAGC]{.nocase} mutations in follicular |
|
| 1384 | +lymphoma. Nat Genet. 2016 Feb;48(2):183--188. PMCID: |
|
| 1385 | +[PMC4731318](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731318)]{.csl-right-inline} |
|
| 1386 | +::: |
|
| 1387 | + |
|
| 1388 | +::: {#ref-pararajalingamCodingNoncodingDrivers2020 .csl-entry} |
|
| 1389 | +[23. ]{.csl-left-margin}[Pararajalingam P, Coyle KM, Arthur SE, Thomas |
|
| 1390 | +N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, |
|
| 1391 | +Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, |
|
| 1392 | +Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, |
|
| 1393 | +Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers |
|
| 1394 | +of mantle cell lymphoma identified through exome and genome sequencing. |
|
| 1395 | +Blood. 2020 Jul 30;136(5):572--584. PMCID: |
|
| 1396 | +[PMC7440974](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440974)]{.csl-right-inline} |
|
| 1397 | +::: |
|
| 1398 | + |
|
| 1399 | +::: {#ref-pasqualucciAnalysisCodingGenome2011 .csl-entry} |
|
| 1400 | +[24. ]{.csl-left-margin}[Pasqualucci L, Trifonov V, Fabbri G, Ma J, |
|
| 1401 | +Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, |
|
| 1402 | +Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera |
|
| 1403 | +R. Analysis of the coding genome of diffuse large [B-cell]{.nocase} |
|
| 1404 | +lymphoma. Nat Genet. 2011 Jul 31;43(9):830--837. PMCID: |
|
| 1405 | +[PMC3297422](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3297422)]{.csl-right-inline} |
|
| 1406 | +::: |
|
| 1407 | + |
|
| 1408 | +::: {#ref-pasqualucciHypermutationMultipleProtooncogenes2001 .csl-entry} |
|
| 1409 | +[25. ]{.csl-left-margin}[Pasqualucci L, Neumeister P, Goossens T, |
|
| 1410 | +Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. [Hypermutation of |
|
| 1411 | +multiple proto-oncogenes in [B-cell]{.nocase} diffuse large-cell |
|
| 1412 | +lymphomas](https://doi.org/10.1038/35085588). Nature. 2001 Jul |
|
| 1413 | +19;412(6844):341--346. ]{.csl-right-inline} |
|
| 1414 | +::: |
|
| 1415 | + |
|
| 1416 | +::: {#ref-pasqualucciInactivatingMutationsAcetyltransferase2011 .csl-entry} |
|
| 1417 | +[26. ]{.csl-left-margin}[Pasqualucci L, Dominguez-Sola D, Chiarenza A, |
|
| 1418 | +Fabbri G, Grunn A, Trifonov V, Kasper LH, Lerach S, Tang H, Ma J, Rossi |
|
| 1419 | +D, Chadburn A, Murty VV, Mullighan CG, Gaidano G, Rabadan R, Brindle PK, |
|
| 1420 | +Dalla-Favera R. Inactivating mutations of acetyltransferase genes in |
|
| 1421 | +[B-cell]{.nocase} lymphoma. Nature. 2011 Mar 10;471(7337):189--195. |
|
| 1422 | +PMCID: |
|
| 1423 | +[PMC3271441](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271441)]{.csl-right-inline} |
|
| 1424 | +::: |
|
| 1425 | + |
|
| 1426 | +::: {#ref-pasqualucciInactivationPRDM1BLIMP12006 .csl-entry} |
|
| 1427 | +[27. ]{.csl-left-margin}[Pasqualucci L, Compagno M, Houldsworth J, Monti |
|
| 1428 | +S, Grunn A, Nandula SV, Aster JC, Murty VV, Shipp MA, Dalla-Favera R. |
|
| 1429 | +Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. |
|
| 1430 | +J Exp Med. 2006 Feb;203(2):311--317. ]{.csl-right-inline} |
|
| 1431 | +::: |
|
| 1432 | + |
|
| 1433 | +::: {#ref-reddyGeneticFunctionalDrivers2017 .csl-entry} |
|
| 1434 | +[28. ]{.csl-left-margin}[Reddy A, Zhang J, Davis NS, Moffitt AB, Love |
|
| 1435 | +CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg |
|
| 1436 | +ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, |
|
| 1437 | +Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, |
|
| 1438 | +Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, |
|
| 1439 | +Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, |
|
| 1440 | +Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava |
|
| 1441 | +G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn |
|
| 1442 | +A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, |
|
| 1443 | +Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional |
|
| 1444 | +Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 |
|
| 1445 | +Oct;171(2):481--494.e15. PMCID: |
|
| 1446 | +[PMC5659841](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659841)]{.csl-right-inline} |
|
| 1447 | +::: |
|
| 1448 | + |
|
| 1449 | +::: {#ref-rushtonGeneticEvolutionaryPatterns2020 .csl-entry} |
|
| 1450 | +[29. ]{.csl-left-margin}[Rushton CK, Arthur SE, Alcaide M, Cheung M, |
|
| 1451 | +Jiang A, Coyle KM, Cleary KLS, Thomas N, Hilton LK, Michaud N, Daigle S, |
|
| 1452 | +Davidson J, Bushell K, Yu S, Rys RN, Jain M, Shepherd L, Marra MA, |
|
| 1453 | +Kuruvilla J, Crump M, Mann K, Assouline S, Connors JM, Steidl C, Cragg |
|
| 1454 | +MS, Scott DW, Johnson NA, Morin RD. Genetic and evolutionary patterns of |
|
| 1455 | +treatment resistance in relapsed [B-cell]{.nocase} lymphoma. Blood Adv. |
|
| 1456 | +2020 Jul 14;4(13):2886--2898. PMCID: |
|
| 1457 | +[PMC7362366](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362366)]{.csl-right-inline} |
|
| 1458 | +::: |
|
| 1459 | + |
|
| 1460 | +::: {#ref-schmitzGeneticsPathogenesisDiffuse2018 .csl-entry} |
|
| 1461 | +[30. ]{.csl-left-margin}[Schmitz R, Wright GW, Huang DW, Johnson CA, |
|
| 1462 | +Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson |
|
| 1463 | +DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, |
|
| 1464 | +Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald |
|
| 1465 | +A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard |
|
| 1466 | +JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, |
|
| 1467 | +Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell |
|
| 1468 | +Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396--1407. PMCID: |
|
| 1469 | +[PMC6010183](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183)]{.csl-right-inline} |
|
| 1470 | +::: |
|
| 1471 | + |
|
| 1472 | +::: {#ref-schollMutationsRegionFAS2007 .csl-entry} |
|
| 1473 | +[31. ]{.csl-left-margin}[Scholl V, Stefanoff CG, Hassan R, Spector N, |
|
| 1474 | +Renault IZ. [Mutations within the 5' region of FAS/CD95 gene in nodal |
|
| 1475 | +diffuse large [B-cell]{.nocase} |
|
| 1476 | +lymphoma](https://doi.org/10.1080/10428190701230858). Leuk Lymphoma. |
|
| 1477 | +2007 May;48(5):957--963. ]{.csl-right-inline} |
|
| 1478 | +::: |
|
| 1479 | + |
|
| 1480 | +::: {#ref-shinBRAFV600EMAP2K12015 .csl-entry} |
|
| 1481 | +[32. ]{.csl-left-margin}[Shin SY, Lee ST, Kim HJ, Ki CS, Jung CW, Kim |
|
| 1482 | +JW, Kim SH. BRAF V600E and MAP2K1 mutations in hairy cell leukemia and |
|
| 1483 | +splenic marginal zone lymphoma cases. Ann Lab Med. 2015 |
|
| 1484 | +Mar;35(2):257--259. PMCID: |
|
| 1485 | +[PMC4330180](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330180)]{.csl-right-inline} |
|
| 1486 | +::: |
|
| 1487 | + |
|
| 1488 | +::: {#ref-tanakaFrequentIncidenceSomatic1992 .csl-entry} |
|
| 1489 | +[33. ]{.csl-left-margin}[Tanaka S, Louie DC, Kant JA, Reed JC. [Frequent |
|
| 1490 | +incidence of somatic mutations in translocated BCL2 oncogenes of |
|
| 1491 | +non-Hodgkin's lymphomas](https://doi.org/10.1182/blood.V79.1.229.229). |
|
| 1492 | +Blood. 1992 Jan 1;79(1):229--237. ]{.csl-right-inline} |
|
| 1493 | +::: |
|
| 1494 | + |
|
| 1495 | +::: {#ref-thomasMutationalAnalysisIkappaBalpha2004 .csl-entry} |
|
| 1496 | +[34. ]{.csl-left-margin}[Thomas RK, Wickenhauser C, Tawadros S, Diehl V, |
|
| 1497 | +Küppers R, Wolf J, Schmitz R. [Mutational analysis of the IkappaBalpha |
|
| 1498 | +gene in activated B cell-like diffuse large [B-cell]{.nocase} |
|
| 1499 | +lymphoma](https://doi.org/10.1111/j.1365-2141.2004.05000.x). Br J |
|
| 1500 | +Haematol. 2004 Jul;126(1):50--54. ]{.csl-right-inline} |
|
| 1501 | +::: |
|
| 1502 | + |
|
| 1503 | +::: {#ref-tiacciBRAFMutationsHairycell2011 .csl-entry} |
|
| 1504 | +[35. ]{.csl-left-margin}[Tiacci E, Trifonov V, Schiavoni G, Holmes A, |
|
| 1505 | +Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, |
|
| 1506 | +Sportoletti P, Pettirossi V, Mannucci R, Elliott O, Liso A, Ambrosetti |
|
| 1507 | +A, Pulsoni A, Forconi F, Trentin L, Semenzato G, Inghirami G, Capponi M, |
|
| 1508 | +Di Raimondo F, Patti C, Arcaini L, Musto P, Pileri S, Haferlach C, |
|
| 1509 | +Schnittger S, Pizzolo G, Foà R, Farinelli L, Haferlach T, Pasqualucci L, |
|
| 1510 | +Rabadan R, Falini B. BRAF mutations in hairy-cell leukemia. N Engl J |
|
| 1511 | +Med. 2011 Jun 16;364(24):2305--2315. PMCID: |
|
| 1512 | +[PMC3689585](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689585)]{.csl-right-inline} |
|
| 1513 | +::: |
|
| 1514 | + |
|
| 1515 | +::: {#ref-yildizActivatingSTAT6Mutations2015 .csl-entry} |
|
| 1516 | +[36. ]{.csl-left-margin}[Yildiz M, Li H, Bernard D, Amin NA, Ouillette |
|
| 1517 | +P, Jones S, Saiya-Cork K, Parkin B, Jacobi K, Shedden K, Wang S, Chang |
|
| 1518 | +AE, Kaminski MS, Malek SN. Activating STAT6 mutations in follicular |
|
| 1519 | +lymphoma. Blood. 2015 Jan 22;125(4):668--679. PMCID: |
|
| 1520 | +[PMC4729538](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729538)]{.csl-right-inline} |
|
| 1521 | +::: |
|
| 1522 | + |
|
| 1523 | +::: {#ref-zhangGeneticHeterogeneityDiffuse2013 .csl-entry} |
|
| 1524 | +[37. ]{.csl-left-margin}[Zhang J, Grubor V, Love CL, Banerjee A, |
|
| 1525 | +Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, |
|
| 1526 | +Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, |
|
| 1527 | +Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, |
|
| 1528 | +Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, |
|
| 1529 | +Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse |
|
| 1530 | +large [B-cell]{.nocase} lymphoma. Proceedings of the National Academy of |
|
| 1531 | +Sciences of the United States of America. 2013;110:1398--1403. PMCID: |
|
| 1532 | +[PMC3557051](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557051)]{.csl-right-inline} |
|
| 1533 | +::: |
|
| 1534 | + |
|
| 1535 | +::: {#ref-barariaCathepsinAlterationsInduce2020 .csl-entry} |
|
| 1536 | +[38. ]{.csl-left-margin}[Bararia D, Hildebrand JA, Stolz S, Haebe S, |
|
| 1537 | +Alig S, Trevisani CP, Osorio-Barrios F, Bartoschek MD, Mentz M, Pastore |
|
| 1538 | +A, Gaitzsch E, Heide M, Jurinovic V, Rautter K, Gunawardana J, Sabdia |
|
| 1539 | +MB, Szczepanowski M, Richter J, Klapper W, Louissaint A, Ludwig C, |
|
| 1540 | +Bultmann S, Leonhardt H, Eustermann S, Hopfner KP, Hiddemann W, von |
|
| 1541 | +Bergwelt-Baildon M, Steidl C, Kridel R, Tobin JWD, Gandhi MK, Weinstock |
|
| 1542 | +DM, Schmidt-Supprian M, Sárosi MB, Rudelius M, Passerini V, Mautner J, |
|
| 1543 | +Weigert O. [Cathepsin S Alterations Induce a Tumor-Promoting Immune |
|
| 1544 | +Microenvironment in Follicular |
|
| 1545 | +Lymphoma](https://doi.org/10.1016/j.celrep.2020.107522). Cell Rep. 2020 |
|
| 1546 | +May 5;31(5):107522. ]{.csl-right-inline} |
|
| 1547 | +::: |
|
| 1548 | + |
|
| 1549 | +::: {#ref-cheungAcquiredTNFRSF14Mutations2010 .csl-entry} |
|
| 1550 | +[39. ]{.csl-left-margin}[Cheung KJJ, Johnson NA, Affleck JG, Severson T, |
|
| 1551 | +Steidl C, Ben-Neriah S, Schein J, Morin RD, Moore R, Shah SP, Qian H, |
|
| 1552 | +Paul JE, Telenius A, Relander T, Lam W, Savage K, Connors JM, Brown C, |
|
| 1553 | +Marra MA, Gascoyne RD, Horsman DE. [Acquired TNFRSF14 mutations in |
|
| 1554 | +follicular lymphoma are associated with worse |
|
| 1555 | +prognosis](https://doi.org/10.1158/0008-5472.CAN-10-2460). Cancer Res. |
|
| 1556 | +2010 Nov 15;70(22):9166--9174. ]{.csl-right-inline} |
|
| 1557 | +::: |
|
| 1558 | + |
|
| 1559 | +::: {#ref-krysiakRecurrentSomaticMutations2017 .csl-entry} |
|
| 1560 | +[40. ]{.csl-left-margin}[Krysiak K, Gomez F, White BS, Matlock M, Miller |
|
| 1561 | +CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, |
|
| 1562 | +Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. |
|
| 1563 | +Recurrent somatic mutations affecting [B-cell]{.nocase} receptor |
|
| 1564 | +signaling pathway genes in follicular lymphoma. Blood. 2017 Jan |
|
| 1565 | +26;129(4):473--483. PMCID: |
|
| 1566 | +[PMC5270390](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270390)]{.csl-right-inline} |
|
| 1567 | +::: |
|
| 1568 | + |
|
| 1569 | +::: {#ref-laurentFollicularLymphomaComprises2024 .csl-entry} |
|
| 1570 | +[41. ]{.csl-left-margin}[Laurent C, Trisal P, Tesson B, Seth S, Beyou A, |
|
| 1571 | +Roulland S, Lesne B, Van Acker N, Cerapio JP, Chartier L, Guille A, |
|
| 1572 | +Stokes M, Huang C, Huet S, Gandhi A, Morschauser F, Xerri L. Follicular |
|
| 1573 | +lymphoma comprises germinal center-like and memory-like molecular |
|
| 1574 | +subtypes with prognostic significance. Blood. 2024 Oct; |
|
| 1575 | +]{.csl-right-inline} |
|
| 1576 | +::: |
|
| 1577 | + |
|
| 1578 | +::: {#ref-louissaintPediatrictypeNodalFollicular2016 .csl-entry} |
|
| 1579 | +[42. ]{.csl-left-margin}[Louissaint A, Schafernak KT, Geyer JT, Kovach |
|
| 1580 | +AE, Ghandi M, Gratzinger D, Roth CG, Paxton CN, Kim S, Namgyal C, Morin |
|
| 1581 | +R, Morgan EA, Neuberg DS, South ST, Harris MH, Hasserjian RP, Hochberg |
|
| 1582 | +EP, Garraway LA, Harris NL, Weinstock DM. Pediatric-type nodal |
|
| 1583 | +follicular lymphoma: A biologically distinct lymphoma with frequent MAPK |
|
| 1584 | +pathway mutations. Blood. 2016 Aug 25;128(8):1093--1100. PMCID: |
|
| 1585 | +[PMC5000844](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000844)]{.csl-right-inline} |
|
| 1586 | +::: |
|
| 1587 | + |
|
| 1588 | +::: {#ref-maSubtypespecificCooccurringGenetic2022 .csl-entry} |
|
| 1589 | +[43. ]{.csl-left-margin}[Ma MCJ, Tadros S, Bouska A, Heavican T, Yang H, |
|
| 1590 | +Deng Q, Moore D, Akhter A, Hartert K, Jain N, Showell J, Ghosh S, Street |
|
| 1591 | +L, Davidson M, Carey C, Tobin J, Perumal D, Vose JM, Lunning MA, Sohani |
|
| 1592 | +AR, Chen BJ, Buckley S, Nastoupil LJ, Davis RE, Westin JR, Fowler NH, |
|
| 1593 | +Parekh S, Gandhi M, Neelapu S, Stewart D, Bhalla K, Iqbal J, Greiner T, |
|
| 1594 | +Rodig SJ, Mansoor A, Green MR. Subtype-specific and co-occurring genetic |
|
| 1595 | +alterations in B-cell non-Hodgkin lymphoma. Haematologica. 2022 |
|
| 1596 | +Mar;107(3):690--701. PMCID: |
|
| 1597 | +[PMC8883549](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883549)]{.csl-right-inline} |
|
| 1598 | +::: |
|
| 1599 | + |
|
| 1600 | +::: {#ref-rossiAberrantSomaticHypermutation2006 .csl-entry} |
|
| 1601 | +[44. ]{.csl-left-margin}[Rossi D, Berra E, Cerri M, Deambrogi C, |
|
| 1602 | +Barbieri C, Franceschetti S, Lunghi M, Conconi A, Paulli M, Matolcsy A, |
|
| 1603 | +Pasqualucci L, Capello D, Gaidano G. Aberrant somatic hypermutation in |
|
| 1604 | +transformation of follicular lymphoma and chronic lymphocytic leukemia |
|
| 1605 | +to diffuse large B-cell lymphoma. Haematologica. 2006 |
|
| 1606 | +Oct;91(10):1405--1409. PMID: |
|
| 1607 | +[17018394](https://www.ncbi.nlm.nih.gov/pubmed/17018394)]{.csl-right-inline} |
|
| 1608 | +::: |
|
| 1609 | + |
|
| 1610 | +::: {#ref-russler-germainMutationsAssociatedProgression2023 .csl-entry} |
|
| 1611 | +[45. ]{.csl-left-margin}[Russler-Germain DA, Krysiak K, Ramirez CA, |
|
| 1612 | +Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, |
|
| 1613 | +Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, |
|
| 1614 | +Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger |
|
| 1615 | +T. [Mutations associated with progression in follicular lymphoma predict |
|
| 1616 | +inferior outcomes at diagnosis: Alliance |
|
| 1617 | +A151303](https://doi.org/10.1182/bloodadvances.2023010779). Blood |
|
| 1618 | +Advances. 2023;7:5524--5539. ]{.csl-right-inline} |
|
| 1619 | +::: |
|
| 1620 | + |
|
| 1621 | +::: {#ref-abateDistinctViralMutational2015 .csl-entry} |
|
| 1622 | +[46. ]{.csl-left-margin}[Abate F, Ambrosio M, Mundo L, Laginestra M, |
|
| 1623 | +Fuligni F, Rossi M, Zairis S, Gazaneo S, Falco GD, Lazzi S, Bellan C, |
|
| 1624 | +Rocca BJ, Amato T, Marasco E, Etebari M, Ogwang M, Calbi V, Ndede I, |
|
| 1625 | +Patel K, Chumba D, Piccaluga P, Pileri S, Leoncini L, Rabadán R. |
|
| 1626 | +[Distinct Viral and Mutational Spectrum of Endemic Burkitt |
|
| 1627 | +Lymphoma](https://doi.org/10.1371/journal.ppat.1005158). PLoS Pathogens. |
|
| 1628 | +2015;11. ]{.csl-right-inline} |
|
| 1629 | +::: |
|
| 1630 | + |
|
| 1631 | +::: {#ref-burkhardtClinicalRelevanceMolecular2022 .csl-entry} |
|
| 1632 | +[47. ]{.csl-left-margin}[Burkhardt B, Michgehl U, Rohde J, Erdmann T, |
|
| 1633 | +Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, |
|
| 1634 | +Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, |
|
| 1635 | +Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, |
|
| 1636 | +Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von |
|
| 1637 | +Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau |
|
| 1638 | +M, Lenz G. Clinical relevance of molecular characteristics in Burkitt |
|
| 1639 | +lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. |
|
| 1640 | +PMCID: |
|
| 1641 | +[PMC9259584](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259584)]{.csl-right-inline} |
|
| 1642 | +::: |
|
| 1643 | + |
|
| 1644 | +::: {#ref-grandeGenomewideDiscoverySomatic2019 .csl-entry} |
|
| 1645 | +[48. ]{.csl-left-margin}[Grande BM, Gerhard DS, Jiang A, Griner NB, |
|
| 1646 | +Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, |
|
| 1647 | +Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, |
|
| 1648 | +Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, |
|
| 1649 | +He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, |
|
| 1650 | +Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, |
|
| 1651 | +Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, |
|
| 1652 | +Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, |
|
| 1653 | +Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery |
|
| 1654 | +of somatic coding and noncoding mutations in pediatric endemic and |
|
| 1655 | +sporadic Burkitt lymphoma. Blood. 2019;133(12):1313--1324. PMCID: |
|
| 1656 | +[PMC6428665](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428665)]{.csl-right-inline} |
|
| 1657 | +::: |
|
| 1658 | + |
|
| 1659 | +::: {#ref-johnstonCmycHypermutationBurkitt1992 .csl-entry} |
|
| 1660 | +[49. ]{.csl-left-margin}[Johnston JM, Carroll WL. [C-myc hypermutation |
|
| 1661 | +in Burkitt's lymphoma](https://doi.org/10.3109/10428199209051025). Leuk |
|
| 1662 | +Lymphoma. 1992 Dec;8(6):431--439. ]{.csl-right-inline} |
|
| 1663 | +::: |
|
| 1664 | + |
|
| 1665 | +::: {#ref-loveGeneticLandscapeMutations2012 .csl-entry} |
|
| 1666 | +[50. ]{.csl-left-margin}[Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, |
|
| 1667 | +Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, |
|
| 1668 | +Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, |
|
| 1669 | +Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt |
|
| 1670 | +AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The |
|
| 1671 | +genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 |
|
| 1672 | +Dec;44(12):1321--1325. PMCID: |
|
| 1673 | +[PMC3674561](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674561)]{.csl-right-inline} |
|
| 1674 | +::: |
|
| 1675 | + |
|
| 1676 | +::: {#ref-muppidiLossSignalingGa132014 .csl-entry} |
|
| 1677 | +[51. ]{.csl-left-margin}[Muppidi J, Schmitz R, Green JA, Green JA, Xiao |
|
| 1678 | +W, Larsen AB, Braun S, An J, Xu Y, Rosenwald A, Ott G, Gascoyne R, |
|
| 1679 | +Rimsza L, Campo E, Jaffe E, Delabie J, Smeland E, Braziel R, Tubbs R, |
|
| 1680 | +Cook J, Weisenburger D, Chan W, Vaidehi N, Staudt L, Cyster J. [Loss of |
|
| 1681 | +signaling via Gα13 in germinal center B cell-derived |
|
| 1682 | +lymphoma](https://doi.org/10.1038/nature13765). Nature. |
|
| 1683 | +2014;516:254--258. ]{.csl-right-inline} |
|
| 1684 | +::: |
|
| 1685 | + |
|
| 1686 | +::: {#ref-paneaWholeGenomeLandscape2019 .csl-entry} |
|
| 1687 | +[52. ]{.csl-left-margin}[Panea R, Love C, Shingleton JR, Reddy A, Bailey |
|
| 1688 | +J, Moormann A, Otieno J, Ong'echa J, Oduor C, Schroêder K, Masalu N, |
|
| 1689 | +Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles |
|
| 1690 | +R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung |
|
| 1691 | +R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop |
|
| 1692 | +A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, |
|
| 1693 | +Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. [The whole genome |
|
| 1694 | +landscape of Burkitt lymphoma |
|
| 1695 | +subtypes.](https://doi.org/10.1182/blood.2019001880) Blood. 2019; |
|
| 1696 | +]{.csl-right-inline} |
|
| 1697 | +::: |
|
| 1698 | + |
|
| 1699 | +::: {#ref-richterRecurrentMutationID32012 .csl-entry} |
|
| 1700 | +[53. ]{.csl-left-margin}[Richter J, Schlesner M, Hoffmann S, Kreuz M, |
|
| 1701 | +Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, |
|
| 1702 | +Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages |
|
| 1703 | +S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, |
|
| 1704 | +Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, |
|
| 1705 | +Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik |
|
| 1706 | +R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, |
|
| 1707 | +MacLeod RAF, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, |
|
| 1708 | +Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, |
|
| 1709 | +Rosenwald A, Brors B, Siebert R, ICGC MMML-Seq Project. [Recurrent |
|
| 1710 | +mutation of the ID3 gene in Burkitt lymphoma identified by integrated |
|
| 1711 | +genome, exome and transcriptome |
|
| 1712 | +sequencing](https://doi.org/10.1038/ng.2469). Nat Genet. 2012 |
|
| 1713 | +Dec;44(12):1316--1320. ]{.csl-right-inline} |
|
| 1714 | +::: |
|
| 1715 | + |
|
| 1716 | +::: {#ref-schmitzBurkittLymphomaPathogenesis2012 .csl-entry} |
|
| 1717 | +[54. ]{.csl-left-margin}[Schmitz R, Young RM, Ceribelli M, Jhavar S, |
|
| 1718 | +Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell |
|
| 1719 | +J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, |
|
| 1720 | +Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, |
|
| 1721 | +Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, |
|
| 1722 | +Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, |
|
| 1723 | +Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. |
|
| 1724 | +Burkitt lymphoma pathogenesis and therapeutic targets from structural |
|
| 1725 | +and functional genomics. Nature. 2012 Oct 4;490(7418):116--120. PMCID: |
|
| 1726 | +[PMC3609867](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609867)]{.csl-right-inline} |
|
| 1727 | +::: |
|
| 1728 | + |
|
| 1729 | +::: {#ref-thomasGeneticSubgroupsInform2023 .csl-entry} |
|
| 1730 | +[55. ]{.csl-left-margin}[Thomas N, Dreval K, Gerhard DS, Hilton LK, |
|
| 1731 | +Abramson JS, Ambinder RF, Barta S, Bartlett NL, Bethony J, Bhatia K, |
|
| 1732 | +Bowen J, Bryan AC, Cesarman E, Casper C, Chadburn A, Cruz M, Dittmer DP, |
|
| 1733 | +Dyer MA, Farinha P, Gastier-Foster JM, Gerrie AS, Grande BM, Greiner T, |
|
| 1734 | +Griner NB, Gross TG, Harris NL, Irvin JD, Jaffe ES, Henry D, Huppi R, |
|
| 1735 | +Leal FE, Lee MS, Martin JP, Martin MR, Mbulaiteye SM, Mitsuyasu R, |
|
| 1736 | +Morris V, Mullighan CG, Mungall AJ, Mungall K, Mutyaba I, Nokta M, |
|
| 1737 | +Namirembe C, Noy A, Ogwang MD, Omoding A, Orem J, Ott G, Petrello H, |
|
| 1738 | +Pittaluga S, Phelan JD, Ramos JC, Ratner L, Reynolds SJ, Rubinstein PG, |
|
| 1739 | +Sissolak G, Slack G, Soudi S, Swerdlow SH, Traverse-Glehen A, Wilson WH, |
|
| 1740 | +Wong J, Yarchoan R, ZenKlusen JC, Marra MA, Staudt LM, Scott DW, Morin |
|
| 1741 | +RD. Genetic subgroups inform on pathobiology in adult and pediatric |
|
| 1742 | +Burkitt lymphoma. Blood. 2023 Feb 23;141(8):904--916. PMCID: |
|
| 1743 | +[PMC10023728](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10023728)]{.csl-right-inline} |
|
| 1744 | +::: |
|
| 1745 | + |
|
| 1746 | +::: {#ref-wildaInactivationARFMDM2p53Pathway2004 .csl-entry} |
|
| 1747 | +[56. ]{.csl-left-margin}[Wilda M, Bruch J, Harder L, Rawer D, Reiter A, |
|
| 1748 | +Borkhardt A, Woessmann W. [Inactivation of the [ARF-MDM-2-p53]{.nocase} |
|
| 1749 | +pathway in sporadic Burkitt's lymphoma in |
|
| 1750 | +children](https://doi.org/10.1038/sj.leu.2403254). Leukemia. 2004 |
|
| 1751 | +Mar;18(3):584--588. ]{.csl-right-inline} |
|
| 1752 | +::: |
|
| 1753 | + |
|
| 1754 | +::: {#ref-zhouSporadicEndemicBurkitt2019 .csl-entry} |
|
| 1755 | +[57. ]{.csl-left-margin}[Zhou P, Blain AE, Newman AM, Zaka M, Chagaluka |
|
| 1756 | +G, Adlar FR, Offor UT, Broadbent C, Chaytor L, Whitehead A, Hall A, |
|
| 1757 | +O'Connor H, Van Noorden S, Lampert I, Bailey S, Molyneux E, Bacon CM, |
|
| 1758 | +Bomken S, Rand V. Sporadic and endemic Burkitt lymphoma have frequent |
|
| 1759 | +FOXO1 mutations but distinct hotspots in the AKT recognition motif. |
|
| 1760 | +Blood Adv. 2019 Jul 23;3(14):2118--2127. PMCID: |
|
| 1761 | +[PMC6650741](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650741)]{.csl-right-inline} |
|
| 1762 | +::: |
|
| 1763 | + |
|
| 1764 | +::: {#ref-shyrFLAGSFrequentlyMutated2014 .csl-entry} |
|
| 1765 | +[58. ]{.csl-left-margin}[Shyr C, Tarailo-Graovac M, Gottlieb M, Lee JJY, |
|
| 1766 | +Karnebeek C van, Wasserman WW. FLAGS, frequently mutated genes in public |
|
| 1767 | +exomes. BMC medical genomics. 2014 Dec;7:64. PMCID: |
|
| 1768 | +[PMC4267152](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267152)]{.csl-right-inline} |
|
| 1769 | +::: |
|
| 1770 | + |
|
| 1771 | +::: {#ref-futrealCensusHumanCancer2004 .csl-entry} |
|
| 1772 | +[59. ]{.csl-left-margin}[Futreal PA, Coin L, Marshall M, Down T, Hubbard |
|
| 1773 | +T, Wooster R, Rahman N, Stratton MR. A census of human cancer genes. |
|
| 1774 | +Nature Reviews Cancer. 2004 Mar;4(3):177--183. PMCID: |
|
| 1775 | +[PMC2665285](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665285)]{.csl-right-inline} |
|
| 1776 | +::: |
|
| 1777 | +:::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::: |