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Genetic Mutations

Discovering New Genetic Mutations that Can Lead to Ovarian Cancer

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Nature Genetics, 2009

Honglin Song et.al

Women with a first-degree relative diagnosed with ovarian cancer are three times as likely to develop the disease themselves. While much research has been devoted to the genetic markers that are most associated with these cases—namely, BRCA1 and BRCA2 mutations—these known susceptibility genes explain less than half of cases with familial risk.

This large-scale study including data and research from the Gilda Radner Familial Ovarian Cancer Registry used advanced genetic sequencing procedures to examine over 500,000 polymorphisms in 1,800 ovarian cancer cases. This screening helped scientists zero on a small set of mutations that may play a role in the development of the disease, but that had not been studied extensively before this point.

By continuing to examine which genetic alterations may be linked to an increased risk of ovarian cancer, researchers can work toward developing new screening methods to diagnose the disease earlier and give patients their best chance at survival.