Testing for Hereditary Risk of Breast and Ovarian Cancer

Abstract

Genetic testing provides an opportunity to characterize cancer risks in individuals that previously could only be estimated from epidemiological data. This paper reviews current data and opinions regarding identification and management of women with mutations in BRCA1 and BRCA2. In particular, its objectives are to summarize the risk of breast and ovarian cancer associated with inherited mutations in the genes BRCA1 and BRCA2, criteria to identify patients for whom genetic testing might be helpful, how such genetic tests are interpreted and management of patients with hereditary risk of breast and ovarian cancer. Conclusions indicate that there is increasing evidence that interventions to address hereditary risk of breast and ovarian cancer are effective. Hereditary risk assessment can enhance the health care of women with a personal or family history of ovarian or early-onset breast cancer.

Ein multifaktorielles Modell zur Ätiologie des Ovarialkarzinoms

“…Trotz intensiver Forschung bleibt die ¾tiologie des OK unklar. Neben einer genetischen autosomalen Prädisposition in etwa 5 ± 10% der Fälle [38,43,46,63,78,96,114] werden Umweltfaktoren (Asbest, Talkum), spezifisches Risikoverhalten (Rauchen, Diät) [22 42, 44, 51, 67, 86,107,119,126] und geografische Faktoren [50] diskutiert. Die Ergebnisse einzelner Studien hierzu sind jedoch oft widersprüchlich.…”