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Article

Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer.

British journal of cancer - 1 Sept 2026

Metcalfe Kelly, Narod Steven A, Poll Aletta, Hoey Christianne, Warner Ellen, Baxter Nancy N, Isherwood Susan, MacDougall Ellen, Zemani Neda, Yang Flora, Suwito Jason Samuel, Quan May-Lynn, Akbari Mohammad R

Abstract excerpt

BACKGROUND: The objective of the study was to evaluate the prevalence of pathogenic variants in 18 cancer predisposition genes in a national cohort of women with breast cancer diagnosed at age 40 or younger. METHODS: Women with breast cancer at age ≤40 years were recruited from 33 Canadian centres at diagnosis. Germline genetic testing was performed for 18 genes (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2,...

Read the complete abstract on PubMed

Topics

Humans
Female
Germ-Line Mutation
Genetic Predisposition to Disease
Breast Neoplasms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Cohort Studies

Canada

Genetic Testing

BRCA2 Protein

BRCA1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 42337046
DOI: 10.1038/s41416-026-03502-1
PMCID: PMC13534697

Genes

BRCA1
BRCA2
ATM
BARD1
BRIP1
CDH1
CHEK2
PALB2
PTEN
EPCAM
MLH1
MSH2
MSH6
PMS2
RAD51C
RAD51D
STK11
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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