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Article

A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome.

Japanese journal of clinical oncology - 1 Oct 2015

Yamaguchi Junya, Sato Yuri, Kita Mizuho, Nomura Sachio, Yamamoto Noriko, Kato Yo, Ishikawa Yuichi, Arai Masami

Abstract excerpt

Lynch syndrome is an autosomal dominantly inherited disease that is characterized by a predisposition to cancers, mainly colorectal cancer. Germline mutations of DNA mismatch repair genes such as MLH1, MSH2, MSH6 and PMS2 have been described in patients with Lynch syndrome. Here, we report deletion of 2 bp in the splice donor site of the MLH1 exon 6 (c.545+4_545+5delCA) in a 48-year-old Japanese woman with Lynch...

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Source

Identifiers

PMID: 26185136
DOI: 10.1093/jjco/hyv103

Genes

MLH1
PMS2
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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