Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations can provide important information for women who are concerned about their breast and ovarian cancer risks and need to make relevant prevention and medical management decisions. However, lifetime risks of breast cancer in individual BRCA1/2 mutation carriers have been confusing to apply in clinical decision-making. Published risk estimates vary significantly and are very dependent on the characteristics of the population under study. Recently, Begg and colleagues estimated cancer risks in a population-based study of BRCA1/2 mutation carriers. Here, we discuss the clinical decision-making implications of this research in the context of risk factors that may influence risk estimates in BRCA1/2 mutation carriers.
Rebbeck
Timothy R
TR
Center for Clinical Epidemiology and Biostatistics and Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA. rebbeck@mail.med.upenn.edu
Domchek
Susan M
SM
D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D014644:Genetic Variation; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012306:Risk; D018570:Risk Assessment