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Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies
Open accessAbstract
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based on multiple-case families may be enriched for mutations of higher risk and/or other familial risk factors, whereas risk estimates from studies based on cases unselected for family history have been imprecise. We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (2%) breast cancer or epithelial ovarian cancer (12%), 500 of whom had been found to carry a germline mutation in BRCA1 or BRCA2. Breast and ovarian cancer incidence rates for mutation carriers were estimated using a modified segregation analysis, based on the occurrence of these cancers in the relatives of mutation-carrying index case patients. The average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer. The corresponding estimates for BRCA2 were 45% (31%-56%) and 11% (2.4%-19%). Relative risks of breast cancer declined significantly with age for BRCA1-mutation carriers (P trend.0012) but not for BRCA2-mutation carriers. Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age. We found some evidence for a reduction in risk in women from earlier birth cohorts and for variation in risk by mutation position for both genes. The pattern of cancer risks was similar to those found in multiple-case families, but their absolute magnitudes were lower, particularly for BRCA2. The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers.
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“the lifetime risk of developing breast cancer in BRCA1/2 mutation carriers ranges from 45 to 80% [8–11]”
From Fear of cancer recurrence in breast cancer survivors carrying a BRCA1 or 2 genetic mutation : a cross-sectional study (2024) · cites this paper as [9]
Experimental — accuracy not yet measuredIn the citing paper
“Heterozygous carriers of mutations in the hereditary breast cancer genes BRCA1 or BRCA2 have a 60–80% lifetime risk of breast cancer [1].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [1]
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Metadata
- Authors
- Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., Pasini, B., Radice, P., Manoukian, S., Eccles, D. M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjäkoski, K., Kallioniemi, O.-P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D. G., & Easton, D. F.
- Affiliations
- University of Cambridge (GB)
- University of Toronto (CA)
- Yale University (US)
- The University of Melbourne (AU)
- Lund University (SE)
- National Cancer Institute (US)
- IFOM (IT)
- Princess Anne Hospital (GB)
- Chinese University of Hong Kong (HK)
- Pomeranian Medical University (PL)
- University of Iceland (IS)
- Helsinki University Hospital (FI)
- Tampere University (FI)
- Cancer Research UK (GB)
- Institute of Cancer Research (GB)
- St Mary's Hospital (GB)
- Corresponding author
- Pharoah, P.D.P.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 72
- Issue
- 5
- Pages
- 1117-1130
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1180265
- OpenAlex
- W2150111967
- Cited by
- 3,680
- References
- 57
- Citations by year
- 2026: 63 · 2025: 100 · 2024: 129 · 2023: 157 · 2022: 145 · 2021: 166 · 2020: 179 · 2019: 172 · 2018: 184 · 2017: 235 · 2016: 214 · 2015: 202 · 2014: 178 · 2013: 188 · 2012: 198
- FWCI
- 11.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- TSpace (University of Toronto) (submittedVersion)
- Funders
- National Institutes of Health (5r01ca081203-04)
- National Cancer Institute (1R01 CA81203, R01CA063682)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Health Sciences › Medicine › Oncology › Cancer Risks and Factors
- Keywords
- BRCA1, BRCA2, germline mutations, breast cancer, epithelial ovarian cancer, cumulative cancer risk, segregation analysis, pedigree data, birth cohort effects, mutation position
- MeSH terms
- Adult, Aged, Breast Neoplasms, Family, Female, Genetic Testing, Heterozygote, Humans, Male, Middle Aged, Mutation, Ovarian Neoplasms, Pedigree, Risk, Global Health, Cohort Studies, Incidence, Age Distribution, Risk Assessment, Genes, BRCA1, Genes, BRCA2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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