Article
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Nature communications - 20 Dec 2016
Litchfield Kevin, Levy Max, Dudakia Darshna, Proszek Paula, Shipley Claire, Basten Sander, Rapley Elizabeth, Bishop D Timothy, Reid Alison, Huddart Robert, Broderick Peter, Castro David Gonzalez de, O'Connor Simon, Giles Rachel H, Houlston Richard S, Turnbull Clare
Abstract excerpt
Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases and 1,644 controls. We search for genes that are recurrently affected by rare variants (minor allele frequency <0.01) with potentially damaging effects and evidence of segregation in families. A...
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