BTG1
[[TOC]]
BTG1 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. These mutations are a feature of the MCD genetic subgroup of DLBCL.
Mutations in the BTG1 gene have been implicated in the pathogenesis and progression of diffuse large B-cell lymphoma (DLBCL) through functional exploration in vivo. Knock-out of BTG1 did not lead to spontaneous lymphomagenesis but enhanced the lymphoproliferation induced by VavP-BCL2 and promoted lymphoma dissemination in xenotransplantation experiments.[@delageBTG1InactivationDrives2023] Another study demonstrated that specific BTG1 mutations afford germinal center (GC) B cells with a fitness advantage relative to un-mutated counterparts.[@mlynarczykBTG1MutationYields2023]
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1 | high-confidence PMBL/cHL/GZL gene[@sarkozyMutationalLandscapeGray2021] |
 |
1[@mlynarczykBTG1MutationYields2023; @delageBTG1InactivationDrives2023] | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
 |
1 | aSHM target and high-confidence FL gene |
 |
2 | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@burkhardtClinicalRelevanceMolecular2022] |
include:DLBCL_BTG1.md include:FL_BTG1.md
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr12 | 92537999 | 92539598 | TSS | active_promoter |
Q36H Conditional knock-in mouse models expressing the BTG1 Q36H mutation in B cells have shown that these mutations lead to earlier onset of lymphoma, shorter survival, and dysplastic B cell infiltration into non-lymphoid organs. These findings reinforce the role of BTG1 mutations in enhancing lymphoma aggressiveness.[@sarkozyMutationalLandscapeGray2021]
L26P, G66D, and I115V Have each been shown to be unable to rescue wild-type BTG1 activity in a xenotransplantation model, suggesting that they impair BTG1 function.[@mlynarczykBTG1MutationYields2023]
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 92539221 | G>A | L31F |
| chr12 | 92539209 | G>A | R35* |
| chr12 | 92539204 | C>G | Q36H |
| chr12 | 92539203 | G>T | L37M |
| chr12 | 92539203 | G>C | L37V |
| chr12 | 92539198 | C>A | Q38H |
| chr12 | 92539195 | GG>CA | T39M |
| chr12 | 92539190 | C>T | S41N |
| chr12 | 92539189 | G>C | S41R |
| chr12 | 92539184 | C>T | S43N |
| chr12 | 92539179 | G>A | Q45* |
| chr12 | 92539174 | C>G | E46D |
| chr12 | 92539173 | G>C | L47V |
| chr12 | 92539167 | C>T | A49T |
| chr12 | 92539164 | C>T | E50K |
| chr12 | 92539164 | C>G | E50Q |
| chr12 | 92538218 | A>C | Y52D |
| chr12 | 92538217 | T>C | Y52C |
| chr12 | 92538215 | T>C | K53E |
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