Book Description

Epithelial ovarian cancer (EOC) is the most lethal gynecological disorder due to a lack of effective early detection strategies. Worldwide, approximately 230,000 women are diagnosed annually, whereas 150,000 die. It represents the seventh most commonly diagnosed cancer among women in the world with 5-year survival rate of 46%. More than one-fifth of EOC have been related to hereditary conditions. Considerable efforts have been made to implement screening of the general population to diagnose EOC early; nevertheless, this has been ineffective and there is no approved strategy. Nowadays, new approaches for early diagnosis and prevention based on molecular genomics are in development. Whole genome sequencing has established the potency of the somatic genome, characterised with diverse DNA repair deficiencies that can be used to stratify EOCs into distinct biological groups with predictive signatures of resistance or relapse. The incorporation of next-generation sequencing (NGS) into clinical practice remains challenging for two reasons. Firstly, the EOC risk is not clear for some of the included genes and secondly, the variant of uncertain significance rates increase as more genes are analyzed. Finally, beyond germline pathogenic variants, somatic mutations may also affect therapeutic choices, and as such upfront tumor sequencing may be equally important to NGS, particularly as we continue to challenge treatment paradigms in the first‐line management of EOC.