Nature Communications (Dec 2016)
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,
- Clare Turnbull
Affiliations
- Kevin Litchfield
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- Max Levy
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- Darshna Dudakia
- Division of Genetics and Epidemiology, 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
- Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht
- Elizabeth Rapley
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- D. Timothy Bishop
- Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology
- Alison Reid
- Robert Huddart
- Peter Broderick
- Division of Genetics and Epidemiology, 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
- Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht
- Richard S. Houlston
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- Clare Turnbull
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- DOI
- https://doi.org/10.1038/ncomms13840
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 8
Abstract
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.
