ArticleBritish journal of cancer2001
A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families.
Article in British journal of cancer, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 108 citations in OpenAlex.
- Rare Germline Variants in DNA Repair Genes Detected inCancers · 2024Article
- Statistical methods for Mendelian models with multiple genes and cancers.Genetic epidemiology · 2022Article
- Predicting the Likelihood of Carrying aJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.Scientific reports · 2022Article
- High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome.Cancers · 2021Article
- Analysis, identification and visualization of subgroups in genomics.Briefings in bioinformatics · 2021Review
- Practical implementation of frailty models in Mendelian risk prediction.Genetic epidemiology · 2020Article
- Review of non-clinical risk models to aid prevention of breast cancer.Cancer causes & control : CCC · 2018Review
- Family history influences the tumor characteristics and prognosis of breast cancers developing during postmenopausal hormone therapy.Familial cancer · 2018Article
- FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.Breast cancer research and treatment · 2017Article
- FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.International journal of cancer · 2016Article
- Screening of HELQ in breast and ovarian cancer families.Familial cancer · 2016Article
- Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis.BMC medicine · 2015Article
- Skin cancer risk in BRCA1/2 mutation carriers.The British journal of dermatology · 2015Review
- Article
- Frailty Models for Familial Risk with Application to Breast Cancer.Journal of the American Statistical Association · 2013Article
- Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.International journal of medical sciences · 2013Article
- Alternative splicing of CHEK2 and codeletion with NF2 promote chromosomal instability in meningioma.Neoplasia (New York, N.Y.) · 2012Article
- Variants on the promoter region of PTEN affect breast cancer progression and patient survival.Breast cancer research : BCR · 2011Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
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Authors and funding
5 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast and ovarian cancer. Our aim was to find associations between the clinical characteristics and positive mutation status in 148 breast cancer families in order to predict the probability of finding a BRCA mutation in a family. Several factors were associated with mutations in univariate analysis, whereas in multivariate analysis (logistic regression with backward selection) only the age of the youngest breast cancer patient and the number of ovarian cancer cases in a family were independent predictors of BRCA mutations. A logistic model was devised to estimate the probability for a family of harbouring a mutation in either BRCA1 or BRCA2. Altogether, 63 out of 148 families (43%) and 28 out of 29 (97%) mutation carrier families obtained probabilities over 10%. The mean probability was 55% for mutation-positive families and 11% for mutation-negative families. The models by Couch et al (1997) and Shattuck-Eidens et al (1997) previously designed for BRCA1 were also tested for their applicability to distinguish carrier families with mutations in either gene. The probability model should be a useful tool in genetic counselling and focusing the mutation analyses, and thus increasing also the cost-effectiveness of the genetic screening.
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