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Article

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

Human mutation - 1 Oct 2004

Shin Young-Kyoung, Heo Seung-Chul, Shin Joo-Ho, Hong Sung-Hye, Ku Ja-Lok, Yoo Byong-Chul, Kim Il-Jin, Park Jae-Gahb

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC families. We screened 44 HNPCC and 97 suspected HNPCC Korean families for germline mutations in three MMR genes: MLH1,...

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Source

Identifiers

PMID: 15365995
DOI: 10.1002/humu.9277

Genes

MLH1
MSH2
MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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