Cancer Genetics: Risks and Mechanisms of Cancer in Women with Hereditary Predisposition to Epithelial Ovarian Cancer

Abstract

Epithelial ovarian cancer (EOC) is the most lethal gynecologic malignancy in the developed world. This is primarily due to the fact that it is found in an advanced stage the majority of the time and that there are no successful and agreed-upon screening modalities. The majority of cases are also sporadic in nature, but a smaller percentage of cases are due to a hereditary predisposition. Gene mutations in BRCA1/2 and those that are a part of Lynch syndrome will increase a woman’s chance of developing ovarian cancer. When this is known, the woman could opt for heightened screening, medication prevention, or prophylactic surgeries. The medication and surgical interventions will either temporarily (e.g., breastfeeding, oral contraceptives) or permanently (e.g., tubal ligation, bilateral salpingo-oophorectomy) prevent pregnancy. As important as it is to identify the families for proper risk assessment, to impart knowledge, and to offer genetic testing in order to make proactive choices, this knowledge must take into account her decisions regarding future childbearing. While oncofertility is usually associated with individuals currently being treated for cancer, women at increased risk for developing EOC based on a hereditary predisposition should similarly be considered for oncofertility counseling and potentially for novel fertility-sparing interventions.