Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

oleh: Kevin Litchfield, Max Levy, Darshna Dudakia, Paula Proszek, Claire Shipley, Sander Basten, Elizabeth Rapley, D. Timothy Bishop, Alison Reid, Robert Huddart, Peter Broderick, David Gonzalez de Castro, Simon O'Connor, Rachel H. Giles, Richard S. Houlston, Clare Turnbull

Format: Article
Diterbitkan: Nature Portfolio 2016-12-01

Deskripsi

There is some evidence of a hereditary risk for developing testicular germ cell tumours. Here, the authors use whole-exome sequencing and identify a risk variant for the disease in DNAAF1, a gene involved in microtubule-based cilia.