SynthesisGenetic epidemiology2016
Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.
Synthesis in Genetic epidemiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 8 of them syntheses that pooled 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.
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.
Who cites it
75 citing papers in PubMed, 8 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- Fear of cancer occurrence in breast cancer previvors: a scoping review of the literature.Frontiers in psychology · 2026Pooled it
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- Society of Surgical Oncology Breast Disease Site Working Group Statement on Bilateral Risk-Reducing Mastectomy: Indications, Outcomes, and Risks.Annals of surgical oncology · 2025Pooled it
- Bayesian meta-analysis of penetrance for cancer risk.Biometrics · 2024Pooled it
- Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Pooled it
- The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.BMC cancer · 2021Pooled it
- Validation of a Semiautomated Natural Language Processing-Based Procedure for Meta-Analysis of Cancer Susceptibility Gene Penetrance.JCO clinical cancer informatics · 2019Pooled it
- Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.Journal of the National Cancer Institute · 2019Pooled it
- Article
- [Hereditary breast cancer : Syndromes, pathology, clinical aspects].Pathologie (Heidelberg, Germany) · 2026Review
- Decoding the Genetic Hallmarks of Breast Cancer: Molecular Signatures, Prognostic and Therapeutic Perspectives.Applied biochemistry and biotechnology · 2026Review
- Evaluating a Mendelian Risk Prediction Model That Aggregates Across Genes and Cancers.Genetic epidemiology · 2026Article
- 5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.Familial cancer · 2025Article
- Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.Molecular biology reports · 2025Article
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- Breast cancer and ATM mutations: treatment implications.Hereditary cancer in clinical practice · 2024Review
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.American journal of human genetics · 2024Article
- Article
- Understanding genetic variations associated with familial breast cancer.World journal of surgical oncology · 2024Review
- Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.World journal of oncology · 2024Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
The gene responsible for ataxia-telangiectasia syndrome, ATM, is also an intermediate-risk breast cancer (BC) susceptibility gene. Numerous studies have been carried out to determine the contribution of ATM gene mutations to BC risk. Epidemiological cohorts, segregation analyses, and case-control studies reported BC risk in different forms, including penetrance, relative risk, standardized incidence ratio, and odds ratio. Because the reported estimates vary both qualitatively and quantitatively, we developed a general model allowing the integration of the different types of cancer risk available in the literature. We performed a comprehensive meta-analysis identifying 19 studies, and used our model to obtain a consensus estimate of BC penetrance. We estimated the cumulative risk of BC in heterozygous ATM mutation carriers to be 6.02% by 50 years of age (95% credible interval: 4.58-7.42%) and 32.83% by 80 years of age (95% credible interval: 24.55-40.43%). An accurate assessment of cancer penetrance is crucial to help mutation carriers make medical and lifestyle decisions that can reduce their chances of developing the disease.
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Registered trials
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.