ATM - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @arthurGenomewideDiscoverySomatic2018, @beaLandscapeSomaticMutations2013, @reddyGeneticFunctionalDrivers2017, @braggioGenomicAnalysisMarginal2012, @fanComprehensiveCharacterizationDriver2020
Overview
Mutations in this gene were first described in MZL by Braggio et al.[@braggioGenomicAnalysisMarginal2012] then in MCL by Bea et al.[@beaLandscapeSomaticMutations2013] ATM mutations were later described in DLBCL by Reddy et al.[@reddyGeneticFunctionalDrivers2017] Although there is experimental data supporting the role of loss-of-function mutations in MCL biology, the relevance of ATM mutations in DLBCL remains unclear. Selective pressure analysis did not identify this gene as significantly enriched for either missense or truncating mutations, indicating that many of these mutations may represent passengers.
Experimental Evidence
Driver mutations affecting this gene in MCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@camachoATMGeneInactivation2002]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
DLBCL
BL
FL
Mutation pattern and selective pressure estimates
Expression
