Ontology highlight
ABSTRACT:
SUBMITTER: Goodfellow PJ
PROVIDER: S-EPMC156300 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
Goodfellow Paul J PJ Buttin Barbara M BM Herzog Thomas J TJ Rader Janet S JS Gibb Randall K RK Swisher Elizabeth E Look Katherine K Walls Ken C KC Fan Ming-Yu MY Mutch David G DG
Proceedings of the National Academy of Sciences of the United States of America 20030505 10
Endometrial cancer is the most common gynecologic malignancy in the United States and the most frequent extracolonic tumor in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC patients have inherited defects in DNA mismatch repair and the microsatellite instability (MSI) tumor phenotype. Sporadic endometrial cancers also exhibit MSI, usually associated with methylation of the MLH1 promoter. Germ-line MSH6 mutations, which are rare in HNPCC, have been reported in several families with mult ...[more]