title: [Hereditary breast and ovarian cancer - indications for genetic testing, counseling and options for mutation carriers].
abstract: Nowadays, women develop breast and ovarian cancer more and more early. Therefore, gynecologists and primary care physicians encounter the question, whether one of their patients has a genetic predisposition for cancer. They are crucial in initiating a referral for genetic counseling as well as in caring for high risk individuals coming up with questions concerning intensified cancer screening, chemoprevention or prophylactic surgery.This review presents the actual knowledge in these topics and delivers the molecular basis of hereditary breast and ovarian cancer mainly due to mutations in the genes BRCA1 and BRCA2. Problematic aspects of the penetrance of these gene mutations are shown and its role in counseling. The important details of the personal and family history, which influence the risk assessment, are pointed out. Tools for the risk calculation are presented as well as criteria for referral for genetic counseling. The important questions, which have to be addressed in pre- and post-test counseling, are discussed. Finally, the options for women with an inherited predisposition in order to reduce their cancer risk are presented. Each of the three management options 'intensified cancer screening', 'chemoprevention' and 'prophylactic surgery' is discussed thoroughly. Recommended cancer screening in male mutation carriers are mentioned as well.
authors.affiliation: Frauenklinik, Kantonsspital Liestal. nicole.buerki@ksli.ch
authors.forename: Nicole
authors.initials: N
authors.lastname: Bürki
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008297:Male; D015336:Molecular Probe Techniques; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics