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Article

Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.

Medical oncology (Northwood, London, England) - 26 Apr 2018

Kaur Raman Preet, Shafi Gowhar, Benipal Raja Paramjeet Singh, Munshi Anjana

Abstract excerpt

In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these genes in a breast cancer cohort. Two hundred ninety-six female breast cancer patients including 4.5% of familial breast cancer cases were included in the study. 200 ng of genomic DNA was used to...

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Source

Identifiers

PMID: 29700634
DOI: 10.1007/s12032-018-1143-2

Genes

BRCA2
MLH1
MSH2
MTHFR

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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