ArticleAmerican journal of human genetics1998
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2.
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 255 papers, 4 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.
Enabling a Paradigm Shift: A Preference-Tolerant RCT of Personalized vs. Annual Screening for Breast Cancer (Wisdom Study)
A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration
Who cites it
255 citing papers in PubMed, 4 syntheses or guidelines pooled it, 756 citations in OpenAlex.
- Family history and breast cancer risk for Asian women: a systematic review and meta-analysis.BMC medicine · 2023Pooled it
- Statistical approaches for meta-analysis of genetic mutation prevalence.Genetic epidemiology · 2021Pooled it
- NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.Journal of genetic counseling · 2013Guideline
- [Value of breast MRI as supplement to mammography and sonography for high risk breast cancer patients].Der Radiologe · 2008Pooled it
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling.PLoS genetics · 2026Article
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.American journal of human genetics · 2026Article
- Refining breast cancer risk estimation in carriers of pathogenicTranslational cancer research · 2026Article
- Psychologically informed reminder messages for promoting BRCA1/2 carrier screening: evidence from a large-scale population-based study.European journal of public health · 2026Observational
- Prediction of germline BRCA mutation using clinicopathologic, MRI semantic, and radiomics features in high-risk breast cancer patients: a multicenter study.Frontiers in radiology · 2026Article
- PERSONALIZED RISK PREDICTION FOR CANCER SURVIVORS: A GENERALIZED BAYESIAN SEMI-PARAMETRIC MODEL OF RECURRENT EVENTS WITH COMPETING OUTCOMES.The annals of applied statistics · 2025Article
- Current insights into breast and ovarian cancer risk: a contemporary review.Minerva surgery · 2025Review
- Incidental Atypia in Patients Undergoing Chest Masculinization Surgery: An Observational Series.Transgender health · 2025Article
- Large-Scale Population Screening forBreast care (Basel, Switzerland) · 2025Article
- Update in the clinical utilization of chemoprevention for breast cancer: a narrative review.Frontiers in oncology · 2025Review
- A Retrospective Chart Analysis Comparing Breast Cancer Detection Rates Between Annual Versus Biennial Mammograms.Journal of clinical medicine research · 2024Article
- Validating Risk Prediction Models for Multiple Primaries and Competing Cancer Outcomes in Families With Li-Fraumeni Syndrome Using Clinically Ascertained Data.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Article
- Predicting five-year interval second breast cancer risk in women with prior breast cancer.Journal of the National Cancer Institute · 2024Article
- Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery.Biomedicines · 2024Review
- Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma.Journal of medical genetics · 2024Article
195 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
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer-susceptibility genes BRCA1 and BRCA2 have recently been identified on the human genome. Women who carry a mutation of one of these genes have a greatly increased chance of developing breast and ovarian cancer, and they usually develop the disease at a much younger age, compared with normal individuals. Women can be tested to see whether they are carriers. A woman who undergoes genetic counseling before testing can be told the probabilities that she is a carrier, given her family history. In this paper we develop a model for evaluating the probabilities that a woman is a carrier of a mutation of BRCA1 and BRCA2, on the basis of her family history of breast and ovarian cancer in first- and second-degree relatives. Of special importance are the relationships of the family members with cancer, the ages at onset of the diseases, and the ages of family members who do not have the diseases. This information can be elicited during genetic counseling and prior to genetic testing. The carrier probabilities are obtained from Bayes's rule, by use of family history as the evidence and by use of the mutation prevalences as the prior distribution. In addressing an individual's carrier probabilities, we incorporate uncertainty about some of the key inputs of the model, such as the age-specific incidence of diseases and the overall prevalence of mutations. There is some evidence that other, undiscovered genes may be important in explaining familial breast cancer. Users of the current version of the model should be aware of this limitation. The methodology that we describe can be extended to more than two genes, should data become available about other genes.
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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.