[BRCA1- and BRCA2 mutations: Clinical management of patients with hereditary breast and ovarian cancer].
BACKGROUND
In total, 5-10% of all breast cancer cases are related to gen mutations. In most cases a mutation in the BRCA1-gen and BRCA2-gen is responsible for insufficient repair of DNA damages that cause breast and ovarian cancer.


CONCLUSIONS
In patients carrying BRCA1-mutation the risk for developing breast and ovarian cancer is 87% and 40% as well as 47% and 20% for those carrying a BRCA2-mutation. Women at hereditary risk should be informed about existing recommendations for surveillance. Primary prevention of breast and ovarian cancer including prophylactic surgery (bilateral salpingoophorectomy and bilateral mastectomy) should be explained to mutation carriers. The issue of oral antihormonal therapy for prevention of breast cancer should be addressed. Psycho-social support should be offered to mutation carriers.


CONCLUSIONS
The clinical management of BRCA1 and BRCA2-mutation carriers is very challenging and should be done in centres specialized in this issue.
Pristauz
Gunda
G
Klinische Abteilung für Gynäkologie, Universitätsklinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität Graz, Graz, Osterreich. gunda.pristauz@klinikum-graz.at
Geigl
Jochen B
JB
Petru
Edgar
E
D051017:Apoptosis Regulatory Proteins; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D033183:Interdisciplinary Communication; D008297:Male; D008408:Mastectomy; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control / Q000628:therapy; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D010052:Ovariectomy; D011379:Prognosis; D012306:Risk; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases
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