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Article

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

Roberts Maegan E, Jackson Sarah A, Susswein Lisa R, Zeinomar Nur, Ma Xinran, Marshall Megan L, Stettner Amy R, Milewski Becky, Xu Zhixiong, Solomon Benjamin D, Terry Mary Beth, Hruska Kathleen S, Klein Rachel T, Chung Wendy K

Abstract excerpt

PURPOSE: An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually. METHODS: We conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Germ-Line Mutation

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Share to Mismatch Repair Endonuclease PMS2

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Source

Open in PubMed Open full text

Identifiers

PMID: 29345684
DOI: 10.1038/gim.2017.254
PMCID: PMC6051923

Genes

MSH6
PMS2
MLH1
MSH2

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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