Litchfield, K., Shipley, J., Turnbull, C. (2015) Common variants identified in genome-wide association studies of testicular germ cell tumour: an update, biological insights and clinical application. ANDROLOGY, 3 (1). pp. 34-46. ISSN 0196-3635

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Abstract

Testicular germ cell tumour (TGCT) is the most common cause of cancer in young men (aged 15-45years) in many populations. Multiple genome-wide association studies (GWAS) of TGCT have now been conducted, yielding over 25 disease-associated single-nucleotide polymorphism (SNP)s at 19 independent loci. The genes at these loci have provided rich biological and genetic insight into possible mechanisms underlying testicular germ cell oncogenesis. In this review, we summarize these mechanisms which can be grouped into five distinct categories: KIT/KITLG signalling, other pathways of male germ cell development/differentiation, telomerase function, microtubule assembly and DNA damage repair. The TGCT risk markers identified through GWAS include individual SNPs carrying per allele odds ratios (OR) in excess of 2.5. These ORs are among the highest reported in GWAS of any cancer type, hence suggesting a potential clinical utility in risk determination. Here, we present analysis of such an approach, using polygenic risk scores to calculate the combined effect of all risk loci on overall TGCT risk and discuss how a potential screening strategy may fit within a broader clinical context.

Item Type:	Review Article
Authors (ICR Faculty only):	Turnbull, Clare and Shipley, Janet
All Authors:	Litchfield, K., Shipley, J., Turnbull, C.
Additional Information:	ISI Document Delivery No.: CC3ZA Times Cited: 0 Cited Reference Count: 105 Litchfield, K. Shipley, J. Turnbull, C. 0 WILEY-BLACKWELL HOBOKEN ANDROLOGY-US SI
Uncontrolled Keywords:	cancer genome-wide sequencing genome-wide association studies single-nucleotide polymorphism testis cancer SUSCEPTIBILITY LOCI INTERNATIONAL TRENDS TELOMERE DYSFUNCTION SEX REVERSAL LUNG-CANCER SPERM DNA GENE RISK PROTEIN PRDM14
Research teams:	ICR divisions > Cancer Therapeutics > Sarcoma Molecular Pathology ICR divisions > Molecular Pathology > Sarcoma Molecular Pathology Closed research groups > Predisposition & Translational Genetics
Depositing User:	Alexander Smithson
Date Deposited:	07 Apr 2015 11:50
Last Modified:	15 Jan 2016 14:23
URI:	http://publications.icr.ac.uk/id/eprint/14013

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