Evidence map›Paper›PMID 42086605›Full record

ArticleNPJ breast cancer2026

Co-occurring rare germline DNA repair gene variants in BRCA1/BRCA2 implicated hereditary breast cancer families.

Wejdan M Alenezi, Neil Recio, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Anne-Marie Mes-Masson, Diane Provencher, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

Abstract read
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In one paragraph

Article in NPJ breast 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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Wejdan M AleneziDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Neil RecioDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Caitlin T FierhellerDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Corinne SerruyaCancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, Quebec, Canada.
Timothée RevilDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Anne-Marie Mes-MassonCentre de recherche du Centre hospitalier de l'Université de Montréal and Institut du cancer de Montréal, Montreal, Quebec, Canada.
Diane ProvencherCentre de recherche du Centre hospitalier de l'Université de Montréal and Institut du cancer de Montréal, Montreal, Quebec, Canada.
Celia M T GreenwoodDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Jiannis RagoussisDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Patricia N ToninDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada. patricia.tonin@mcgill.ca.

Funding

Canadian Institute for Health Research (CIHR) PJT-156124Cancer Research Society operating grant 21123
6 · The paper itself

Abstract

As gene-panels expand to include candidate breast cancer predisposing genes (CPGs) involved in diverse DNA repair pathways, we investigated an index breast cancer (BC) case from 56 BRCA1/BRCA2 implicated high-risk hereditary BC families using gene-based approach for co-occurring, rare germline variants predicted to be damaging and clinically relevant in 276 DNA repair genes (DRGs). Using whole exome sequencing analyses, we identified a total of 287 variants in 55% of DRGs, of which 24 loss-of-function and 36 other predicted damaging variants were identified in 72% and 76% of BRCA1 and BRCA2 implicated cases, respectively. We also identified 60 variants of clinical interest in various known CPGs, including those involved in risk to other cancers, in 72% of BRCA1 and 60% of BRCA2 cases. The number of variants predicted to be deleterious in diverse DRGs raises questions about the interpretability of findings as panel testing expands beyond clinically established breast CPGs.

Identifiers

PMID42086605
PMCPMC13350704

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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.