ArticleJAMA oncology2025
Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.
Article in JAMA oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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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.
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Who cites it
8 citing papers in PubMed.
- Breast and Ovarian Cancer Among Individuals Undergoing BRCA1 and BRCA2 Testing.JAMA network open · 2026Article
- Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women.Cancer · 2026Article
- Contemporary risk assessment and risk-reducing strategies for tubo-ovarian cancer in women with BRCA pathogenic variants.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2026Review
- Review
- Adverse childhood experiences, adult adiposity, and risk of young-onset breast cancer subtypes in a population-based case-control study.Cancer causes & control : CCC · 2026Article
- Metabolomics and Human Health: Progress, Insights, Challenges and the Concept of a Healthy Metabolome.Biomolecules · 2026Review
- Article
- Genomic ascertainment ofmedRxiv : the preprint server for health sciences · 2026Article
Corrections and comments
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Authors and funding
39 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: Inherited pathogenic variants (PVs) in known predisposition genes can greatly increase breast cancer risk, but the combined impact of PV status, family history, and other factors on breast cancer risk in the general US population has not been well described. Objective: To evaluate population-based breast cancer risk estimates for those with established PVs overall and stratified by first-degree family history of breast cancer and other factors. Design, Setting, and Participants: This study used pooled data from 13 US-based breast cancer case-control studies participating in the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Enrollment for individual studies occurred between 1976 and 2013, and results are based on data released March 2023, with analyses conducted from June 2022 to July 2025. Exposures: PVs, breast cancer family history, self-reported race and ethnicity, and established risk factors. Main Outcomes and Measures: Breast cancer rate ratios for PVs in 7 genes were estimated from the CARRIERS consortium. PV status and incidence and mortality statistics were combined using the Individualized Coherent Absolute Risk Estimation (iCARE) model to estimate conditional cumulative breast cancer risks and 95% CIs, stratified by family history and standardized to the US population. Models that incorporated population-based data and published estimates for established epidemiologic risk factors were also evaluated. Results: A total of 67 692 women were studied, including 33 841 who were diagnosed with breast cancer. PVs in ATM, BRCA1, BRCA2, CHEK2, and PALB2 were strongly associated with breast cancer risk, with BRCA1 and PALB2 PVs showing evidence of heterogeneity by family history. In models considering PVs, family history, and established risk factors, the estimated cumulative risks of breast cancer by age 50 years ranged from 2.4% (95% CI, 2.4-2.4) in women with no PVs and no family history to 35.5% (95% CI, 21.6-55.1) in PALB2 PV carriers with a family history. Among women who have not been diagnosed with breast cancer by age 50 years, the cumulative risk of breast cancer by age 80 years ranged from 11.1% (95% CI, 11.0-11.2) in noncarriers with no family history to 70.5% (95% CI, 52.8-83.5) for PALB2 carriers with a family history. PV-specific cumulative risk estimates varied across subgroups defined by race and ethnicity and potentially modifiable epidemiologic risk factors. Conclusions and Relevance: In this study, population-based estimates of cumulative breast cancer risk for established PVs, as informed by the CARRIERS case-control sample, varied by family history and potentially modifiable risk factors. These estimates provide guidance for identifying individuals who will most benefit from enhanced screening and prevention strategies.
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