Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

oleh: Deepak N. Subramanian, Magnus Zethoven, Simone McInerny, James A. Morgan, Simone M. Rowley, Jue Er Amanda Lee, Na Li, Kylie L. Gorringe, Paul A. James, Ian G. Campbell

Format: Article
Diterbitkan: Nature Portfolio 2020-04-01

Deskripsi

Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.