Evidence map›Paper›PMID 40451289›Full record

ArticleJournal of medical genetics2025

Associations between

Toqir K Mukhtar, Leila Dorling, Naomi Wilcox, Joe Dennis, Xin Yang, Melissa Southey, Marc Tischkowitz, Douglas F Easton

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Guideline
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

8 authors.

Toqir K MukhtarCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK tm621@medschl.cam.ac.uk.ORCID http://orcid.org/0009-0001-4983-495X
Leila DorlingCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK.
Naomi WilcoxCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK.
Xin YangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-0037-3790
Melissa SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.ORCID http://orcid.org/0000-0002-6313-9005
Marc TischkowitzGenomic Medicine, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Previous studies have suggested the missense variant NM_000051.4(ATM):c.7271T>G is associated with a high risk of breast cancer (BC), but the magnitude of the association, and the associations with other cancer types, are unclear. Cancer associations were evaluated using sequence data linked to cancer registration data (348 488 participants, 56 640 cancer cases) from UK Biobank (UKB), and targeted sequence or genome-wide array data (126 428 cases, 115 495 controls) from the Breast Cancer Association Consortium (BCAC). The magnitudes of the association of c.7271T>G with invasive BC were similar using UKB (relative risk (RR): 4.57, 95% CI: 2.25 to 9.30, p=2.7×10

Indexed as

Ataxia Telangiectasia Mutated ProteinsBreast NeoplasmsGenetic Predisposition to DiseaseAgedBiological Specimen BanksFemaleGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRisk FactorsUK BiobankUnited KingdomAtaxia Telangiectasia Mutated ProteinsATM protein, humanHuman Genetics

Identifiers

PMID40451289
PMCPMC12418526

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.