Reddy et al. (2017)
Summary of novel genes
| Entity | Total | Tier 1 | Tier 2 | Tier 2 Pass | Tier 2 Fail | Fail rate |
|---|---|---|---|---|---|---|
| DLBCL | 60 | 8 | 52 | 23 | 29 | 44% |
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New to this study, DLBCL Tier 1, 8
New to this study, DLBCL Tier 2, 52
DLBCL Tier 2, Pass QC, 23
DLBCL Tier 2, Fail QC, 29
Novel genes reported in this study
Tier 1
| Novel gene | DLBCL tier | Average variant quality |
|---|---|---|
| ATM | 1 | ★ ★ ★ ☆ ☆ |
| BIRC6 | 1 | ★ ★ ★ ☆ ☆ |
| HIST1H2BC | 1 | ★ ★ ★ ★ ☆ |
| HNRNPU | 1 | ★ ★ ★ ☆ ☆ |
| SETD1B | 1 | ★ ★ ☆ ☆ ☆ |
| TOX | 1 | ★ ★ ★ ☆ ☆ |
| UBE2A | 1 | ★ ★ ★ ☆ ☆ |
| CASP8 | 1 | ★ ★ ★ ☆ ☆ |
Tier 2
| Novel gene | DLBCL tier | Average variant quality | QC outcome |
|---|---|---|---|
| ARID5B | 2 | ★ ★ ★ ★ ☆ | Pass |
| BTBD3 | 2 | ★ ★ ★ ★ ☆ | Pass |
| SETD5 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| ATR | 2 | ★ ★ ★ ☆ ☆ | Pass |
| BRINP3 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| TGFBR2 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| TIPARP | 2 | ★ ★ ★ ☆ ☆ | Pass |
| CD22 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| NF1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| IKBKB | 2 | ★ ★ ★ ☆ ☆ | Pass |
| JUNB | 2 | ★ ★ ★ ☆ ☆ | Pass |
| KCMF1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| MAGT1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| MECOM | 2 | ★ ★ ★ ☆ ☆ | Pass |
| PTPN6 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| MET | 2 | ★ ★ ★ ☆ ☆ | Pass |
| ZFX | 2 | ★ ★ ★ ☆ ☆ | Pass |
| YY1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| FOXP1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| FUBP1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| GOLGA5 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| MSH6 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| MCL1 | 2 | ★ ★ ★ ☆ ☆ | Pass |
| ANKRD17 | 2 | ★ ★ ★ ☆ ☆ | Fail |
| CDC73 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| CHD1 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| CHD8 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| CHST2 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| DCAF6 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| DDX10 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| DICER1 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| HRAS | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| LIN54 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| MAP4K4 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| MSH2 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| GNAS | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| MYB | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| NCOR1 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| NFKB2 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| PHF6 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| PIK3CD | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| PTPRK | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| ZFAT | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| ARID1B | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| RUNX1 | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| CBLB | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| SYK | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| WAC | 2 | ★ ★ ☆ ☆ ☆ | Fail |
| ZBTB7A | 2 | ★ ☆ ☆ ☆ ☆ | Fail |
| RARA | 2 | ★ ☆ ☆ ☆ ☆ | Fail |
| DNMT3A | 2 | ★ ☆ ☆ ☆ ☆ | Fail |
| MARK1 | 2 | ★ ☆ ☆ ☆ ☆ | Fail |
See Also
The primary data supporting each of the mutations reported in this study can be viewed in IGV reports along with mutations unique to the GAMBL re-analysis.(Dreval et al. 2023)
References
Dreval, Kostiantyn, Manuela Cruz, Christopher Rushton, Nina Liuta,
Houman Layegh Mirhosseini, Callum Brown, Ryan D. Morin, and the GAMBL
Consortium. 2023. “Revisiting Reddy: A DLBCL Do-over.” November 22, 2023. https://doi.org/10.1101/2023.11.21.567983.
Reddy, Anupama, Jenny Zhang, Nicholas S Davis, Andrea B Moffitt,
Cassandra L Love, Alexander Waldrop, Sirpa Leppa, et al. 2017. “Genetic and
Functional Drivers of Diffuse Large B Cell
Lymphoma.” Cell 171 (2): 481–494.e15.


