ea28d306b9a0fde47c68c8813c842308bb47591a
ETV6.md
| ... | ... | @@ -1,6 +1,6 @@ |
| 1 | 1 | # ETV6 |
| 2 | 2 | ## Overview |
| 3 | -ETV6 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The prevalence of mutations in DLBCL has varied across different studies and may occur in as many as 10% of patients. ETV6 coding and non-coding mutations are associated with the MCD genetic subgroup of DLBCL. |
|
| 3 | +ETV6 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The prevalence of mutations in DLBCL has varied across different studies and may occur in as many as 10% of patients. This gene has some recurrent sites of mutations (hot spots) including multiple mutations predicted to affect splicing of ETV6 pre-mRNA. The mutation pattern in DLBCL mplies the preferential accumulation of *inactivating mutations*. Coding and non-coding mutations in this gene are associated with the MCD genetic subgroup of DLBCL. |
|
| 4 | 4 | |
| 5 | 5 | ## Relevance tier by entity |
| 6 | 6 |