ArticleAmerican journal of human genetics1998
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 831 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.
Genetic Risk: Whether, When, and How to Tell Adolescents
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Who cites it
831 citing papers in PubMed, 8 syntheses or guidelines pooled it, 3,035 citations in OpenAlex.
- 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
- The impact of BRCA mutation and hormone receptor status on the outcomes of fertility preservation in breast cancer patients: a systematic review and meta-analysis.Frontiers in oncology · 2025Pooled it
- ESR Essentials: screening for breast cancer - general recommendations by EUSOBI.European radiology · 2024Guideline
- Does breast-conserving surgery with radiotherapy in BRCA-mutation carriers significantly increase ipsilateral breast tumor recurrence? A systematic review and meta-analysis.Breast cancer (Tokyo, Japan) · 2022Pooled it
- Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2021Pooled it
- Efficacy and safety of PARP inhibitors as the maintenance therapy in ovarian cancer: a meta-analysis of nine randomized controlled trials.Bioscience reports · 2020Pooled it
- Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations.The Cochrane database of systematic reviews · 2018Pooled it
- Association of BRCA1/2 mutations with ovarian cancer prognosis: An updated meta-analysis.Medicine · 2018Pooled it
- Rare loss of function variants in candidate genes and risk of colorectal cancer.Human genetics · 2018Trial
- Article
- Impact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada.Annals of surgical oncology · 2026Article
- Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.Saudi medical journal · 2026Article
- A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.BMC research notes · 2026Article
- Precision Medicine in Rural Settings: Patient Perspectives on Clinician-Ordered Genetic Testing.Research square · 2026Article
- Hotspots and future trends of male breast cancer: a global perspective.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Diversity within ovarian cancer subtypes and their tumor microenvironment.Frontiers in oncology · 2026Review
- Exon-Specific Targeted Analysis ofCancer informatics · 2026Article
- Clinicopathological characteristics of BRCA1-associated breast carcinoma patients in Kazakhstan.Discover oncology · 2025Article
- TIGIT, as a potential immune checkpoint target for immunotherapy of breast cancer.Medical oncology (Northwood, London, England) · 2025Review
- Article
771 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
25 authors at 20 institutions in 9 countries.
Funding
Abstract
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers. Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other predisposition genes. The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2. Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). The largest proportion (67%) of families due to other genes was found in families with four or five cases of female breast cancer only. These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data. Among those families with disease due to BRCA1 that were tested by one of the standard screening methods, mutations were detected in the coding sequence or splice sites in an estimated 63% (95% CI 51%-77%). The estimated sensitivity was identical for direct sequencing and other techniques. The penetrance of BRCA2 was estimated by maximizing the LOD score in BRCA2-mutation families, over all possible penetrance functions. The estimated cumulative risk of breast cancer reached 28% (95% CI 9%-44%) by age 50 years and 84% (95% CI 43%-95%) by age 70 years. The corresponding ovarian cancer risks were 0.4% (95% CI 0%-1%) by age 50 years and 27% (95% CI 0%-47%) by age 70 years. The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in BRCA2 carriers <50 years of age.
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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.