Screening for gynaecologic cancers in genetically predisposed women

Abstract

Hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colon cancer syndrome are the two most important syndromes responsible for inherited cancers in gynaecology. Genetic testing is available for both these syndromes. Breast cancer gene testing is affordable and easy in women with ancestry where the mutation patterns are known, whereas other population groups need full gene screening. Hereditary non-polyposis colon cancer syndrome can now be diagnosed more frequently with the use of immunohistochemistry. Ovarian cancer risk is high in hereditary breast and ovarian cancer syndromes, and advanced screening techniques should be used when preventive surgery is not an option. Early detection techniques offer less protection than prophylactic removal, but enable women to retain their reproductive organs. Oophorectomy has the advantage of reducing breast cancer risk. In colorectal cancer syndromes, the risk for endometrial and ovarian cancer is much elevated. These risks should be recognised and addressed as these diseases are easy to prevent.