Genetic markers for ovarian cancer risk: are we close to seeing a clinical impact?

Abstract

Epithelial ovarian cancer is the most lethal of gynecologic malignancies. It is the ninth most commonly diagnosed cancer among women in the USA, with an estimated 22,000 new cases in 2012; however, it ranks fifth in mortality with approximately 15,500 deaths [1]. The high mortality is attributable to the fact that more than 60% of cases are diagnosed with distant disease, for which the 5-year relative survival rate is only 27% [101]. The late stage at diagnosis and poor survival among the majority of women with ovarian cancer has led to considerable efforts to determine whether earlier detection is a viable strategy for reducing mortality from the disease. Numerous studies have evaluated various modalities, especially CA125 and transvaginal ultrasound, as screening tests for ovarian cancer, but results have not been encouraging. The largest study conducted within the USA, the PLCO Cancer Screening trial, found no evidence that screening women with CA125 and transvaginal ultrasound reduced ovarian cancer mortality [2]. Furthermore, screening was associated with significant harms, with approximately 20 women undergoing surgery for every screen-detected