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Article

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

BMC medical genetics - 22 Jun 2018

Jia Shuqin, Zhang Meng, Sun Yu, Yan Hai, Zhao Fangping, Li Ziyu, Ji Jiafu

Abstract excerpt

BACKGROUND: Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3-5% of colorectal cancer. The risks of several types of cancer are greatly increased among individuals with LS. In this study, 4 members of a Chinese family with a MLH1 pathogenic variant, resulting in colonic carcinoma, was reported. CASE PRESENTATION: A 52-year-old colon cancer female was brought to us...

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Source

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Identifiers

PMID: 29929473
DOI: 10.1186/s12881-018-0605-x
PMCID: PMC6014015

Genes

MLH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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