Inherited cancer syndromes in gynaecology: what the practitioner needs to know!

During the last 5 years progress in molecular genetics has offered the poss ibility of genetic testing for inherited mutations of cancer-predisposing g enes. The exact cellular function and carcinogenic potential of these genes is yet not completely understood. Only in 5-20% of all cancers inherited g enetic mutations play an important role in the polygenic and multifactorial nature of the disease. Identification of inherited cancer syndromes, predi ctive genetic testing, and counselling of women and family members at incre ased risk is of clinical importance. The debate surrounding presymptomatic diagnostic testing and adequate programmes for early cancer detection, prev ention or clinical follow-up continues.