Familial and genetic cancers in gynaecology

Abstract

The diagnosis of inherited cancer-susceptibility syndromes can enable identification of individuals at increased risk for earlyonset cancer. The treatment and prognosis of patients diagnosed with malignancy due to a germ-line mutation may differ from the standard therapy. Hereditary breast and ovarian cancer (HBOC) syndrome and hereditary non-polyposis colon cancer (HNPCC) syndrome are the two most important syndromes responsible for inherited cancers in gynaecology. Genetic testing is available for both these syndromes. BRCA testing is affordable and easy in South Africa for patients with Afrikaner or Ashkenazi ancestry, as the mutation patterns are known. Women’s health care clinicians must be well informed about these cancer syndromes. Families with a potential genetic mutation should be identified and referred for investigation or counselled for genetic testing. Counselling pre-requisites include complete information about the disease, genetic tests, estimated cancer risk and cancer risk management. Individualised cancer risk can be estimated based on genetic and/or clinical information. Breast, endometrial and ovarian cancers are potentially either preventable or qualify for early detection through advanced screening techniques. Surgical and hormonal prevention is effective, but has important economic, psychosocial and clinical implications. Early detection techniques offer less protection and a smaller improvement in morbidity and mortality. Screening is also a costly option but may be more acceptable to some patients. In colon 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.