Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Peter GeorgesonBernard J PopeChristophe RostyMark ClendenningKhalid MahmoodJi-Hoon E JooRomy WalkerRyan A HutchinsonSusan PrestonJulia ComoSharelle JoselandAung-Ko WinFinlay A MacraeJohn L HopperDmitri MouradovPeter GibbsOliver M SieberDylan E O'SullivanDarren R BrennerSteve GallingerMark A JenkinsIngrid M WinshipDaniel D BuchananPublished in: Gut (2021)
Assessment of SBS and ID signatures can discriminate CRCs from biallelic MUTYH carriers and MMR PV carriers from non-carriers with high accuracy, demonstrating utility as a potential diagnostic and variant classification tool.