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

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 and Clare Turnbull ()
Additional contact information
Kevin Litchfield: The Institute of Cancer Research
Max Levy: The Institute of Cancer Research
Darshna Dudakia: The Institute of Cancer Research
Paula Proszek: Centre for Molecular Pathology, The Royal Marsden NHS Foundation Trust
Claire Shipley: Centre for Molecular Pathology, The Royal Marsden NHS Foundation Trust
Sander Basten: Regenerative Medicine Center Utrecht, University Medical Center Utrecht
Elizabeth Rapley: The Institute of Cancer Research
D. Timothy Bishop: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology
Peter Broderick: The Institute of Cancer Research
David Gonzalez de Castro: Centre for Molecular Pathology, The Royal Marsden NHS Foundation Trust
Simon O'Connor: Centre for Molecular Pathology, The Royal Marsden NHS Foundation Trust
Rachel H. Giles: Regenerative Medicine Center Utrecht, University Medical Center Utrecht
Richard S. Houlston: The Institute of Cancer Research
Clare Turnbull: The Institute of Cancer Research

Nature Communications, 2016, vol. 7, issue 1, 1-8

Abstract: Abstract 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

Date: 2016
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DOI: 10.1038/ncomms13840

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