Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours

Rapley, Elizabeth A., Crockford, Gillian P., Teare, Dawn, Biggs, Patrick, Seal, Sheila, Barfoot, Rita, Edwards, Sandra, Hamoudi, Rifat, Heimdal, Ketil, Fosså, Sophie D., Tucker, Kathy, Donald, Jenny, Collins, Felicity, Friedlander, Michael, Hogg, David, Goss, Paul, Heidenreich, Axel, Ormiston, Wilma, Daly, Peter A., Forman, David, Oliver, R. Timothy D., Leahy, Michael, Huddart, Robert, Cooper, Colin S. ORCID: https://orcid.org/0000-0003-2013-8042, Bodmer, Julia G., Easton, Douglas F., Stratton, Michael R. and Bishop, D. Timothy (2000) Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nature Genetics, 24 (2). pp. 197-200. ISSN 1061-4036

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Testicular germ-cell tumours (TGCT) affect 1 in 500 men and are the most common cancer in males aged 15-40 in Western European populations. The incidence of TGCT has risen dramatically over the last century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT (ref. 7) and a family history of the disease. Brothers of men with TGCT have an 8-10-fold risk of developing TGCT (refs 8,9), whereas the relative risk to fathers and sons is fourfold (ref. 9). This familial relative risk is much higher than that for most other types of cancer. We have collected samples from 134 families with two or more cases of TGCT, 87 of which are affected sibpairs. A genome-wide linkage search yielded a heterogeneity lod (hlod) score of 2.01 on chromosome Xq27 using all families compatible with X inheritance. We obtained a hlod score of 4.7 from families with at least one bilateral case, corresponding to a genome-wide significance level of P=0.034. The proportion of families with UDT linked to this locus was 73% compared with 26% of families without UDT (P=0.03). Our results provide evidence for a TGCT susceptibility gene on chromosome Xq27 that may also predispose to UDT.

Item Type: Article
Additional Information: Funding Information: We thank the families and the clinicians, including T. Sandeman and K. Cox, for participation; J. Nicholls for collecting many of the ICR families; and E. Peacock for help in preparing the manuscript. We acknowledge the support of the Cancer Research Campaign, the New South Wales Cancer Council and the Imperial Cancer Research Fund.
Uncontrolled Keywords: genetics,sdg 3 - good health and well-being ,/dk/atira/pure/subjectarea/asjc/1300/1311
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies
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Depositing User: LivePure Connector
Date Deposited: 18 Jul 2022 15:31
Last Modified: 22 Oct 2022 19:32
URI: https://ueaeprints.uea.ac.uk/id/eprint/86484
DOI: 10.1038/72877

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