title: A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour.
abstract: Testicular germ cell tumour (TGCT) is the most common malignancy in men aged 15-45 years. A small deletion on the Y chromosome known as 'gr/gr' was shown to be associated with a two-fold increased risk of TGCT, increasing to three-fold in cases with a family history of TGCT. Additional deletions of the Y chromosome, known as AZFa, AZFb and AZFc, are described in patients with infertility; however, complete deletions of these regions have not been identified in TGCT patients. We screened the Y chromosome in a series of TGCT cases to evaluate if additional deletions of Y were implicated in TGCT susceptibility. Single copy Y chromosome STS markers with an average inter-marker spacing of 128 kb were examined in constitutional DNA of 271 index TGCT patients. Three markers showed evidence of deletions, sY1291, indicative of 'gr/gr' (eight out of 271; 2.9%), Y-DAZ3 contained within 'gr/gr' (21 out of 271; 7.7%) and a single deletion of the marker G66152 was identified in one TGCT case. No other markers demonstrated deletions. While several regions of the Y chromosome are known to be deleted and associated with infertility, our study provides no evidence to suggest regions of Y deletion, other than 'gr/gr', are associated with susceptibility to TGCT in UK patients.
authors.affiliation: Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Brookes Lawley Building, Sutton, Surrey SM2 5NG, UK.
authors.forename: R
authors.initials: R
authors.lastname: Linger
authors.forename: D
authors.initials: D
authors.lastname: Dudakia
authors.forename: R
authors.initials: R
authors.lastname: Huddart
authors.forename: D
authors.initials: D
authors.lastname: Easton
authors.forename: D T
authors.initials: DT
authors.lastname: Bishop
authors.forename: M R
authors.initials: MR
authors.lastname: Stratton
authors.forename: E A
authors.initials: EA
authors.lastname: Rapley
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics*; D020161:Physical Chromosome Mapping; D013736:Testicular Neoplasms / Q000235:genetics*
chemical_list: D005819:Genetic Markers