Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification.

Abstract excerpt

Biallelic pathogenic variants in MUTYH cause MUTYH-associated polyposis (MAP), a rare recessive colorectal cancer (CRC) predisposition syndrome characterized by somatic G:C > T:A transversions. The hotspot somatic mutations KRAS-G12C and PIK3CA-Q546K are highly enriched in MAP CRCs, and are rarely observed in sporadic cases, suggesting their potential utility in supporting the reclassification of variants of...

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