ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2011
Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Association between FAS 1377G>A polymorphism and breast cancer susceptibility: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Is mammography screening beneficial: An individual-based stochastic model for breast cancer incidence and mortality.PLoS computational biology · 2020Trial
- The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey.Familial cancer · 2025Article
- Prediction of Cancer Proneness under Influence of X-rays with Four DNA Mutability and/or Three Cellular Proliferation Assays.Cancers · 2024Article
- ASO Author Reflections: Genetic Counseling, a Path to Testing.Annals of surgical oncology · 2024Article
- Uncovering hidden genetic risk factors for breast and ovarian cancers in BRCA-negative women: a machine learning approach in the Saudi population.PeerJ. Computer science · 2024Article
- Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.Journal of medical genetics · 2020Review
- Somatic variants of potential clinical significance in the tumors ofHereditary cancer in clinical practice · 2019Article
- Transcriptome profiling revealed multiple genes and ECM-receptor interaction pathways that may be associated with breast cancer.Cellular & molecular biology letters · 2019Article
- Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?PloS one · 2018Article
- No evidence of excessive cancer screening in female noncarriers fromCurrent oncology (Toronto, Ont.) · 2017Article
- Antimüllerian hormone levels are lower in BRCA2 mutation carriers.Fertility and sterility · 2017Article
- Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.Oncology reports · 2017Article
- Article
- Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.Familial cancer · 2016Article
- Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers.Journal of genetic counseling · 2013Article
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeWomen with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian cancer. A recent study claimed that women testing negative for their family-specific BRCA1 or BRCA2 mutation (noncarriers) have a five-fold increased risk of breast cancer. We estimated breast cancer risks for noncarriers by using a population-based sample of patients with breast cancer and their female first-degree relatives (FDRs). PATIENTS AND
methodsPatients were women with breast cancer and their FDRs enrolled in the population-based component of the Breast Cancer Family Registry; patients with breast cancer were tested for BRCA1 and BRCA2 mutations, as were FDRs of identified mutation carriers. We used segregation analysis to fit a model that accommodates familial correlation in breast cancer risk due to unobserved shared risk factors.
resultsWe studied 3,047 families; 160 had BRCA1 and 132 had BRCA2 mutations. There was no evidence of increased breast cancer risk for noncarriers of identified mutations compared with FDRs from families without BRCA1 or BRCA2 mutations: relative risk was 0.39 (95% CI, 0.04 to 3.81). Residual breast cancer correlation within families was strong, suggesting substantial risk heterogeneity in women without BRCA1 or BRCA2 mutations, with some 3.4% of them accounting for roughly one third of breast cancer cases.
conclusionThese results support the practice of advising noncarriers that they do not have any increase in breast cancer risk attributable to the family-specific BRCA1 or BRCA2 mutation.
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