B2M - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @pararajalingamCodingNoncodingDrivers2020, @reichelFlowSortingExome2015, @morinFrequentMutationHistonemodifying2011, @challa-malladiCombinedGeneticInactivation2011,
Overview
The B2M (β2-microglobulin) gene plays a crucial role in the function of the major histocompatibility complex (MHC) class I molecules, which are essential for immune system recognition of infected or malignant cells.
Experimental Evidence
B2M mutations in B-cell lymphomas, particularly in DLBCL and PMBCL, lead to reduced MHC class I expression, enabling tumor cells to evade immune detection and destruction by cytotoxic T cells. This is often accompanied by mutations in the β2-Microglobulin gene, which further aids in immune evasion.[@challa-malladiCombinedGeneticInactivation2011]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
MCL
Mutation pattern and selective pressure estimates
B2M Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr15 | 45003745 | A>G | M1? |
| chr15 | 45003745 | A>T | M1? |
| chr15 | 45003745 | AGATGTCT>- | NA |
| chr15 | 45003746 | T>A | M1? |
| chr15 | 45003746 | T>C | M1? |
| chr15 | 45003746 | T>G | M1? |
| chr15 | 45003747 | G>A | M1? |
| chr15 | 45003747 | G>C | M1? |
| chr15 | 45003758 | T>A | V5E |
| chr15 | 45003761 | C>A | A6D |
| chr15 | 45003764 | T>C | L7S |
| chr15 | 45003764 | T>G | L7* |
| chr15 | 45003766 | G>C | A8P |
| chr15 | 45003767 | C>A | A8D |
| chr15 | 45003770 | T>A | V9E |
| chr15 | 45003770 | T>G | V9G |
| chr15 | 45003779 | T>A | L12Q |
| chr15 | 45003779 | T>C | L12P |
| chr15 | 45003779 | T>G | L12R |
| chr15 | 45003781 | C>T | L13F |
| chr15 | 45003782 | T>C | L13P |
Expression
