ArticleBritish journal of cancer2002
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.
Article in British journal of cancer, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06564428 (A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration), which is not on this map. Cited by 170 papers, 6 of them syntheses that pooled it.
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.
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.
A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration
Who cites it
170 citing papers in PubMed, 6 syntheses or guidelines pooled it, 490 citations in OpenAlex.
- The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.Scientific reports · 2021Pooled it
- Effectiveness of decision aids for female BRCA1 and BRCA2 mutation carriers: a systematic review.BMC medical informatics and decision making · 2019Pooled it
- NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.Journal of genetic counseling · 2013Guideline
- Quantitative assessment of common genetic variants on chromosome 5p12 and hormone receptor status with breast cancer risk.PloS one · 2013Pooled it
- Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis.European radiology · 2010Pooled it
- The 6q22.33 locus and breast cancer susceptibility.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009Pooled it
- Accelerating discovery of cancer causes for prevention in the era of rising early-onset cancers.Cell · 2026Review
- Evaluating a Mendelian Risk Prediction Model That Aggregates Across Genes and Cancers.Genetic epidemiology · 2026Article
- Frequency of Founder Mutations inCancers · 2026Review
- Modeling Individual-Level Uncertainty From Missing Data in Multifactorial Breast Cancer Risk Prediction.JCO precision oncology · 2026Article
- Diversity within ovarian cancer subtypes and their tumor microenvironment.Frontiers in oncology · 2026Review
- Review
- Prognostic implications of ductal carcinomaAnnals of surgical treatment and research · 2024Article
- Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes.EBioMedicine · 2024Article
- Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.International journal of molecular sciences · 2024Article
- Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024Article
- Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.NPJ genomic medicine · 2024Article
- Hereditary cancer testing in a diverse sample across three breast imaging centers.Breast cancer research and treatment · 2024Article
- Unlocking the epigenetic code: new insights into triple-negative breast cancer.Frontiers in oncology · 2024Review
- NTHL1 is a recessive cancer susceptibility gene.Scientific reports · 2023Article
110 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
8 authors at 4 institutions in 1 country.
Funding
Abstract
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist. We used data from both a population based series of breast cancer cases and high risk families in the UK, with information on BRCA1 and BRCA2 mutation status, to investigate the genetic models that can best explain familial breast cancer outside BRCA1 and BRCA2 families. We also evaluated the evidence for risk modifiers in BRCA1 and BRCA2 carriers. We estimated the simultaneous effects of BRCA1, BRCA2, a third hypothetical gene 'BRCA3', and a polygenic effect using segregation analysis. The hypergeometric polygenic model was used to approximate polygenic inheritance and the effect of risk modifiers. BRCA1 and BRCA2 could not explain all the observed familial clustering. The best fitting model for the residual familial breast cancer was the polygenic, although a model with a single recessive allele produced a similar fit. There was also significant evidence for a modifying effect of other genes on the risks of breast cancer in BRCA1 and BRCA2 mutation carriers. Under this model, the frequency of BRCA1 was estimated to be 0.051% (95% CI: 0.021-0.125%) and of BRCA2 0.068% (95% CI: 0.033-0.141%). The breast cancer risk by age 70 years, based on the average incidence over all modifiers was estimated to be 35.3% for BRCA1 and 50.3% for BRCA2. The corresponding ovarian cancer risks were 25.9% for BRCA1 and 9.1% for BRCA2. The findings suggest that several common, low penetrance genes with multiplicative effects on risk may account for the residual non-BRCA1/2 familial aggregation of breast cancer. The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families.
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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.