Evidence map›Paper›PMID 42337046›Full record

ArticleBritish journal of cancer2026

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

Kelly Metcalfe, Steven A Narod, Aletta Poll, Christianne Hoey, Ellen Warner, Nancy N Baxter, Susan Isherwood, Ellen MacDougall, Neda Zemani, Flora Yang and 4 more

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Article in British journal of cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

14 authors.

Kelly MetcalfeBloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada. Kelly.metcalfe@utoronto.ca.ORCID http://orcid.org/0000-0003-1803-2169
Steven A NarodWomen's College Research Institute, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-5798-0626
Aletta PollWomen's College Research Institute, Toronto, ON, Canada.
Christianne HoeyWomen's College Research Institute, Toronto, ON, Canada.
Ellen WarnerDepartment of Medical Oncology, Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Nancy N BaxterUniversity of Sydney, Sydney, NSW, Australia.
Susan IsherwoodDepartment of Surgery, University of Calgary, Calgary, AB, Canada.
Ellen MacDougallWomen's College Research Institute, Toronto, ON, Canada.
Neda ZemaniWomen's College Research Institute, Toronto, ON, Canada.
Flora YangDepartment of Surgery, University of Calgary, Calgary, AB, Canada.
Jason Samuel SuwitoCumming School of Medicine, University of Calgary, Calgary, AB, Canada.
May-Lynn Quan *Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Mohammad R Akbari *Women's College Research Institute, Toronto, ON, Canada.
RUBY Study Group

Funding

Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) 139590
6 · The paper itself

Abstract

backgroundThe 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.

methodsWomen 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, PALB2, PTEN, STK11, RAD51D, RAD51C, EPCAM, MLH1, MSH2, MSH6, and PMS2). Prevalence of pathogenic variants (PVs) was estimated by age, family history and clinical characteristics.

resultsIn 805 women, 153 PVs were found (positivity rate 18.6%). Most PVs (63%) were found in BRCA1 (50) or BRCA2 (46). Other PVs were in CHEK2 (24), ATM (13), PALB2 (10), TP53 (5), BRIP1 (1), BARD1 (1), CDH1 (1) and PTEN (1). Higher PV frequencies were found in women with tumours with lobular histology (29.2%), triple negative cancers (27.5%), and bilateral breast cancers (35.7%).

conclusionsOverall, 18.6% of women with young breast cancer had PVs in 18 genes tested, including 6.8% in a gene other than BRCA1 or BRCA2. Study results suggest that genetic testing should be offered to all women diagnosed breast cancer at the age of 40 or younger.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseGerm-Line MutationAdultBRCA1 ProteinBRCA2 ProteinCanadaCohort StudiesFemaleGenetic TestingHumansBRCA1 ProteinBRCA2 Protein

Identifiers

PMID42337046
PMCPMC13534697

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.