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In a cohort of 335 non-mucinous epithelial ovarian cancer (EOC) patients, 94 met high-risk criteria and underwent multigene panel testing. Among 35 evaluable high-risk patients, 10 (28.6%) carried germline mutations in cancer predisposition genes, including one patient (2.9%) with a MUTYH variant (PMID:28188963). No segregation data for MUTYH were reported in affected families, and the specific allele was not detailed in the study.
Given the single heterozygous finding and absence of familial cosegregation or functional follow-up in ovarian tissue, the clinical validity of MUTYH in familial ovarian cancer is assessed as Limited. Although MUTYH is a well-established autosomal recessive colorectal cancer gene, its role in EOC remains uncertain. Nevertheless, identification of MUTYH mutations in high-risk EOC cases suggests that targeted germline testing including MUTYH may be considered in selected patients with hereditary ovarian cancer risk factors.
Gene–Disease AssociationLimitedSingle heterozygous MUTYH mutation identified in one of 35 high-risk EOC patients (2.9%) ([PMID:28188963]), no segregation data Genetic EvidenceLimitedOne proband with MUTYH variant detected, no familial segregation reported Functional EvidenceNoneNo functional studies of MUTYH in ovarian cancer context reported |