FAS - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @paneaWholeGenomeLandscape2019, @spinaGeneticsNodalMarginal2016, @morinFrequentMutationHistonemodifying2011, @schollMutationsRegionFAS2007, @wohlfartFASCD95Mutations2004, @rysFasMutationsNonHodgkins2019,
Overview
FAS encodes a cell surface receptor involved in the induction of apoptosis. FAS mutations are common in DLBCL and may be more frequent in primary gastric DLBCL.[@wohlfartFASCD95Mutations2004],[@schollMutationsRegionFAS2007] Mutations also occur in FL at a lower rate.[@morinFrequentMutationHistonemodifying2011] Although reported in one BL study,[@paneaWholeGenomeLandscape2019] overall the evidence for FAS mutations in BL remains sparse. Mutations in FAS often lead to a loss of function, making lymphoma cells resistant to Fas ligand-induced apoptosis, thereby allowing malignant cells to evade immune surveillance.[@rysFasMutationsNonHodgkins2019] In mouse models, Fas mutations led to a significantly shorter lymphoma-specific survival and reduced sensitivity to chemotherapy.[@rysFasMutationsNonHodgkins2019]
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@wangFasFADDDeathDomain2010]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
Expression
