Table of Contents
Overview
WEE1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 32 | 0.0294 | [0.0194,0.0394] |
| DLBCL | GAMBL with Reddy | 2,088 | 48 | 0.0230 | [0.0166,0.0294] |
| DLBCL | BC | 231 | 10 | 0.0433 | [0.017,0.0695] |
| DLBCL | Dana-Farber | 303 | 6 | 0.0198 | [0.0041,0.0355] |
| DLBCL | NCI | 470 | 13 | 0.0277 | [0.0128,0.0425] |
| DLBCL | Reddy | 999 | 16 | 0.0160 | [0.0082,0.0238] |
| DLBCL | DLBCL_ICGC | 85 | 3 | 0.0353 | [0,0.0745] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 2.9985 | 0.0000 | 1.0000 |
| FL | 0.7150 | 0.0000 | 1.0000 |
| DLBCL | 0.6829 | 1.4309 | 0.2715 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 9595246 | 9599502 | intron | NA |
WEE1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr11 | 9595762 | G>C | L94F |
| chr11 | 9595887 | G>A | S136N |
| chr11 | 9595888 | C>G | S136R |
| chr11 | 9595889 | T>G | S137A |
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Expression
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References
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Hodgkin and Reed-Sternberg cells. Blood.
2015 Feb 12;125(7):1061–1072.
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Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson
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JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S,
Wilson WH, Staudt LM. Genetics and Pathogenesis of
Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr
12;378(15):1396–1407. PMCID: PMC6010183