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

Elizabeth A. Rapley, Gillian P. Crockford, Dawn Teare, Patrick Biggs, Sheila Seal, Rita Barfoot, Sandra Edwards, Rifat Hamoudi, Ketil Heimdal, Sophie D. Fosså, Kathy Tucker, Jenny Donald, Felicity Collins, Michael Friedlander, David Hogg, Paul Goss, Axel Heidenreich, Wilma Ormiston, Peter A. Daly, David FormanR. Timothy D Oliver, Michael Leahy, Robert Huddart, Colin S. Cooper, Julia G. Bodmer, Douglas F. Easton, Michael R. Stratton*, D. Timothy Bishop

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    216 Citations (Scopus)

    Abstract

    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.

    Original languageEnglish
    Pages (from-to)197-200
    Number of pages4
    JournalNature Genetics
    Volume24
    Issue number2
    DOIs
    Publication statusPublished - Feb 2000

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