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[Hereditary cancer syndromes in gynecology: what the practitioner needs to know!]
B Kuschel1, O R Köchli, D Niederacher
1Frauenklinik, Heinrich-Heine-Universität, Düsseldorf.
Abstract:
During the last 5 years progress in molecular genetics has offered the possibility of genetic testing for inherited mutations of cancer-predisposing genes. The exact cellular function and carcinogenic potential of these genes is yet not completely understood. Only in 5-20% of all cancers inherited genetic mutations play an important role in the polygenic and multifactorial nature of the disease. Identification of inherited cancer syndromes, predictive genetic testing, and counselling of women and family members at increased risk is of clinical importance. The debate surrounding presymptomatic diagnostic testing and adequate programmes for early cancer detection, prevention or clinical follow-up continues.