1. ¹Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Brookes Lawley Building, Sutton, Surrey SM2 5NG, UK
2. ²Academic Radiotherapy Unit, Institute of Cancer Research, Sutton, Surrey SM2 5PT, UK
3. ³Genetic Epidemiology Unit, Cancer Research UK, Strangeways Research Laboratory, Cambridge CB1 8RN, UK
4. ⁴Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James's University Hospital, Leeds LS9 7TF, UK

Correspondence: Dr E Rapley, E-mail: liz.rapley@icr.ac.uk

Received 21 September 2006; Revised 24 November 2006; Accepted 27 November 2006; Published online 9 January 2007.

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.