Overview
Mutations in GNA13, which encodes a G protein alpha subunit involved in multiple signaling pathways, have been identified as significant contributors to the pathogenesis of germinal centre-derived B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL).1 This gene has some recurrent sites of mutations (hot spots). Overall, mutations are often loss-of-function in nature, disrupting the normal activity of GNA13. GNA13 regulates B-cell homing and growth suppression within the germinal center niche and its loss of function promotes lymphoma development.2
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene1 | |
| 1 | high-confidence BL gene2 | |
| 1 | high-confidence DLBCL gene3 | |
| 1 | high-confidence FL gene3 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
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Mutation pattern and selective pressure estimates
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GNA13 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr17 | 63052633 | G>A | Q27* |
| chr17 | 63052631 | C>G | Q27H |
| chr17 | 63052630 | G>A | Q28* |
| chr17 | 63052613 | C>G | E33D |
| chr17 | 63052609 | C>G | D35H |
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Expression
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