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Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.

Familial cancer - 1 Dec 2012

Takahashi Masanobu, Furukawa Yoichi, Shimodaira Hideki, Sakayori Masato, Moriya Takuya, Moriya Yoshihiro, Nakamura Yusuke, Ishioka Chikashi

Abstract excerpt

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer, characterized by predisposition to colorectal cancer and other associated cancers, is an autosomal-dominant disorder mainly caused by germline mutations in DNA mismatch repair (MMR) genes such as MLH1, MSH2, and MSH6. Some mutations that disrupt splice donor or acceptor sites cause aberrant mRNA splicing. These mutations are generally...

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Source

Identifiers

PMID: 22766992
DOI: 10.1007/s10689-012-9547-1

Genes

MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.PMID 22766992Read ↗

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