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-EE[@mlynarczykBTG1MutationYields2023; @delageBTG1InactivationDrives2023a] | 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.3
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.2
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.