Familial Ovarian Cancer: Counselling, Genetic Testing, Prophylactic Surgery. Issues, Questions, Recommendations

Abstract

Familial ovarian cancer has been gaining extensive coverage in the lay press recently, posing a counselling dilemma to physicians in general and gynaecologists in particular. The literature on this topic has exploded with publications since 1991 when the first indication surfaced that a gene responsible for the development of epithelial ovarian cancer (EOC) is located on chromosome 17.1 As the same gene also appears to have a close link to the development of breast cancer,2 large numbers of women are potential gene carriers as breast cancer alone affects 10 percent of the female population. The search for the breast ovarian cancer gene (BRCA1), therefore, has become a focus of genetic research around the world.At the same time, the questions asked by patients centre around the possibility of early diagnosis and prevention in those women found to be potential gene carriers. While our knowledge of the exact genetic mechanism involved in the development of this cancer is still in its embryonic state, it is important that we scrutinize carefully our recommendations to patients, who are anxious and vulnerable. Often informed reassurance may be more helpful than well meaning intervention.