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Article

A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.

Cancer genetics - 1 Jun 2023

Xu Jianbiao, Song Jianlin, Zhu Wenchuan, Zuo Liangyu, Wu Jinzhi, Zhang Li, Wang Tongmin, Guo Jianhui

Abstract excerpt

Lynch syndrome (LS) is an autosomal dominant inherited disorder, characterized by a predisposition to various cancers, mainly colorectal cancer (CRC). LS is caused by germline mutations in DNA mismatch repair genes i.e. mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6), and post-meiotic segregation increased 2 (PMS2). In this study, we report a novel germline frameshift mutation in the MLH1 gene...

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Source

Identifiers

PMID: 37001204
DOI: 10.1016/j.cancergen.2023.03.003

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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