Evidence map›Paper›PMID 41044259›Full record

ArticleNPJ breast cancer2025

Meta-analysis of exome-wide gene burden analysis of breast cancer susceptibility genes.

Jennifer A Collister, Karl Smith-Byrne, Joshua Atkins, Gillian Reeves, David J Hunter

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ breast cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. A NovelCurrent oncology (Toronto, Ont.) · 2025
    Article
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

5 authors.

Jennifer A CollisterNuffield Department of Population Health, University of Oxford, Oxford, UK. jennifer.collister@ndph.ox.ac.uk.
Karl Smith-ByrneCancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Joshua AtkinsCancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Gillian ReevesCancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
David J HunterNuffield Department of Population Health, University of Oxford, Oxford, UK.

Funding

Cancer Research UK C16077/A29186Cancer Research UK C8221/A29017
6 · The paper itself

Abstract

We provide an updated meta-analysis of rare variants identified by exome sequences and breast cancer risk in up to 74,127 cases and 748,181 controls, combining results from 12,695 cases from the Million Women Study with published summary statistics. Protein-truncating variants in established susceptibility genes BRCA2, BRCA1, CHEK2, PALB2, ATM and MAP3K1 were associated with a risk of breast cancer, while BARD1 and ATRIP met exome-wide significance for the first time.

Identifiers

PMID41044259
PMCPMC12494685

What OpenQuestion holds

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Registered trials

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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.