Latest research unmasks six new susceptibility genes predisposing to ovarian cancer

Ovarian cancer ranks fifth among cancer-related death in women. While the exact cause of ovarian cancer remains largely unknown, up to one in five cases are thought to be triggered by a genetic predisposition.

Genome-Wide Association Studies (GWAS) have led to the discovery of twelve epithelial ovarian cancer (EOC) susceptibility genes, representing ground-breaking progress in better understanding the genetic drivers implicated in ovarian cancer. Continued investigation into the risk indicators predisposing to this disease will be key to current and future efforts aimed at prevention.

An international study, published in this month´s Nature Genetics *, assessed the associations of eleven million genetic variants with EOC risk from a total of 15,437 cases without family history, 30,845 cases of people who have not developed the disease, and from 15,252 and 8,211 carriers of the BRCA1 and BRCA2 mutation respectively, which are gene mutations already known to increase risk of ovarian cancer. Expanding on the earlier GWAS studies, these analyses have unmasked a further six genes to be linked to the increased risk of developing epithelial ovarian cancer.

This multi-center undertaking was carried out by 200 leading scientists and physician-researchers, also involving the participation of several investigators from cancer research centers across Spain.

Commenting on the study, Orland Díez, co-author and Principal Investigator of the Vall d´Hebron Institute of Oncology´s Oncogenetics Group, observes,In order to outsmart cancer we must be able to identify those women with higher lifetime risk of ovarian cancer. Only by establishing the factors that can influence the risk of developing the disease, can we be better equipped to prevent it


* Identification of six new susceptibility loci for invasive epithelial ovarian cancer, Nature Genetics 47,164–171, (2015), doi:10.1038/ng.3185

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