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.