SynthesisAmerican journal of human genetics2003
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.
Synthesis in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 3 registered trials, which are not on this map. Cited by 1,382 papers, 6 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.
Family Communication of Hereditary Cancer Risk Among African Americans
Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results
A 3D Bioprinted Hormone-producing Model for BRCA Mutated Patients After Risk Reducing Surgery: the DISC-OVARY Trial
Who cites it
1,382 citing papers in PubMed, 6 syntheses or guidelines pooled it, 3,661 citations in OpenAlex.
- Breast cancer incidence and subtype patterns among BRCA-mutated ovarian cancer patients: a systematic review and meta-analysis.British journal of cancer · 2026Pooled it
- Does bilateral mastectomy affect clinical outcomes in BRCA1/2 mutation carriers with primary breast cancer? A systematic review and meta-analysis.Familial cancer · 2026Pooled it
- Early menarche and breast cancer risk: a systematic review and meta-analysis of 74 case-control studies.Cancer causes & control : CCC · 2026Pooled it
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- 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
- BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis.BMC cancer · 2023Pooled it
- A Multilevel Intervention to Identify Individuals for Genetic Testing and Treatment: The IGNITE-TX Pilot Randomized Clinical Trial.JAMA network open · 2026Trial
- Hereditary breast cancer: emerging roles of non-coding RNAs.Hereditas · 2026Review
- TALAVE in Breast Cancer:bioRxiv : the preprint server for biology · 2026Article
- Repair of DNA double-strand breaks after low radiation doses in childhood cancer survivors and matched cancer-free individuals.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- High-grade serous ovarian cancer is associated with increased TP53 mutation burden in uterine lavage.NPJ precision oncology · 2026Article
- Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.Human genetics · 2026Article
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Male breast carcinoma in a 45-year-old without known risk factors: case report and literature review.International journal of surgery case reports · 2026Article
- The impact of breast cancer polygenic risk score disclosure on decisional conflict around risk-reducing mastectomy in women with pathogenic BRCA1/2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.American journal of human genetics · 2026Article
- Comprehensive assessment of incidence, mortality, and lifetime risk of ovarian cancer: a global study with forecasts to 2050.Journal of gynecologic oncology · 2026Article
- BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.European journal of human genetics : EJHG · 2026Article
- Impact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada.Annals of surgical oncology · 2026Article
1,322 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
33 authors at 18 institutions in 11 countries.
Funding
Abstract
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.
Indexed as
Identifiers
What OpenQuestion holds
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.