[Molecular genetics and clinics of hereditary breast cancer].
Breast cancer is a heterogenous disease caused by mutations in tumor associated genes. While the vast majority of breast carcinomas occur sporadically, about 5% are attributable to dominant susceptibility alleles. Two major genes, BRCA1 and BRCA2, have been identified and account for a risk of up to 80% for breast cancer and up to 40% for ovarian cancer. Molecular genetic diagnosis allows the identification of women at risk that can be offered predictive meassures. Predictive strategies comprise primary, secondary and tertiary care. While data on medical prevention are still pending in this risk group, intensive surveillance and prophylactic surgery are proven to be effective in early tumor detection and reduction of incidence rates, respectively. However, there is little or no data regarding the efficacy of these procedures in terms of survival and quality of life. The German Hereditary Breast and Ovarian Cancer Consortium supported by the German Cancer Aid addresses these issues in a prospective cohort study with a standardized enrollment, prevention and follow up protocol. Results are presented in light of recent developments.
Universitäts-Frauenklinik, Abteilung Molekulare Gynäko-Onkologie, 50931 Köln, Germany, Rita.Schmutzler@uk-koeln.de
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D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D018570:Risk Assessment
D019313:BRCA1 Protein; D024682:BRCA2 Protein