Runs of homozygosity and testicular cancer risk

Background Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but t...

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Veröffentlicht in:	Andrology (Oxford) 2019-07, Vol.7 (4), p.555-564
Hauptverfasser:	Loveday, C., Sud, A., Litchfield, K., Levy, M., Holroyd, A., Broderick, P., Kote‐Jarai, Z., Dunning, A. M., Muir, K., Eeles, R., Easton, D. F., Dudakia, D., Pashayan, N., Reid, A., Huddart, R. A., Turnbull, C., Rustin, Gordon, Srihari, Narayanan N, Bertelli, Gianfilippo, Barber, James, Gilby, Ed, White, Jeff, Baybrooke, Jeremy, Leahy, Michael, Welch, Richard, Chakraborti, Prabir, Joffe, Johnathan, Brown, Richard, Faust, Guy, Simmonds, Peter, Stockdale, Andrew, Hrounda, David, Appel, Wiebke, Hong, Anne, Howard, Grahame, Douglas, Fiona, Butt, Mohammad, Kelly, Kay, Mehra, Rakesh, Rogers, Paul, Hatton, Matthew, Hennig, Ivo, Savage, Philip, Seckl, Michael, Gale, Joanna, Clark, Peter, Woby, Steve, Rathmell, Adrian, Lamont, Alan, Sarwar, Naveed, Chowdhury, Simon, Beesley, Sharon, Winkler, Mathius, Hamid, Abdel, Pathak, Sanjeev, Madhavan, Krishnaswamy, Highley, Martin, Money‐Kryle, Julian, Brock, Cathryn, Sreenivasan, Thiagarajan, Dalsgaard Sorensen, Karina, Maehle, Lovise, Neal, David E, Hamdy, Freddie C, Donovan, Jenny L, Travis, Ruth C, Ann Ingles, Sue, Rosenstein, Barry S, Lu, Yong‐Jie, Giles, Graham G, Kibel, Adam S, Vega, Ana, Kogevinas, Manolis, Park, Jong Y, Stanford, Janet L, Cybulski, Cezary, Nordestgaard, Børge G, Brenner, Hermann, Kim, Jeri, John, Esther M, Teixeira, Manuel R, Neuhausen, Susan L, De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F, Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A, Gago Dominguez, Manuela, Roobol, Monique J, Menegaux, Florence, Khaw, Kay‐Tee, Cannon‐Albrigh, Lisa, Pandha, Hardev, Thibodeau, Stephen N
Format:	Artikel
Sprache:	eng
Schlagworte:	cancer Genetics Genome Genome-Wide Association Study genome‐wide association studies Genotype homozygosity mapping Homozygote Humans Male Neoplasms, Germ Cell and Embryonal - genetics Polymorphism, Single Nucleotide recessive Risk Factors runs of homozygosity Testicular cancer testicular germ cell tumour Testicular Neoplasms - genetics Tumors
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Zusammenfassung:	Background Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but to date none have been reported. Runs of homozygosity (RoH) are a signature indicating underlying recessively acting alleles and have been associated with increased risk of other cancer types. Objective To examine whether RoH are associated with TGCT risk. Methods We performed a genome‐wide RoH analysis using GWAS data from 3206 TGCT cases and 7422 controls uniformly genotyped using the OncoArray platform. Results Global measures of homozygosity were not significantly different between cases and controls, and the frequency of individual consensus RoH was not significantly different between cases and controls, after correction for multiple testing. RoH at three regions, 11p13‐11p14.3, 5q14.1‐5q22.3 and 13q14.11‐13q.14.13, were, however, nominally statistically significant at p
ISSN:	2047-2919 2047-2927
DOI:	10.1111/andr.12667