Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

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ICR Authors

Eeles, Rosalind
 Kote-Jarai, Zsofia
 Shipley, Janet
 Huddart, Robert
 Turnbull, Clare

Authors

Ruark, E
Seal, S
McDonald, H
Zhang, F
Elliot, A
Lau, K
Perdeaux, E
Rapley, E
Eeles, R
Peto, J
Kote-Jarai, Z
Muir, K
Nsengimana, J
Shipley, J
UK Testicular Cancer Collaboration (UKTCC),
Bishop, DT
Stratton, MR
Easton, DF
Huddart, RA
Rahman, N
Turnbull, C

Document Type

Journal Article

Date

2013-06-01

Date Accepted

2013-04-10

Abstract

Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) showing association with TGCT (P < 5 × 10(-8)), which together account for an additional 4-6% of the familial risk of TGCT. The loci include genes plausibly related to TGCT development. PRDM14, at 8q13.3, is essential for early germ cell specification, and DAZL, at 3p24.3, is required for the regulation of germ cell development. Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation.

Citation

Nature genetics, 2013, 45 (6), pp. 686 - 689

DOI

10.1038/ng.2635

URI

https://repository.icr.ac.uk/handle/internal/2371

Rights

https://www.rioxx.net/licenses/all-rights-reserved

Source Title

Publisher

NATURE PUBLISHING GROUP

ISSN

1061-4036

eISSN

1546-1718

Collections

Breast Cancer Research
Cancer Biology
Cancer Therapeutics
Closed Research Teams
Genetics and Epidemiology
Radiotherapy and Imaging

Research Team

Predisposition & Translation Genetics
Genetic Susceptibility
Sarcoma Molecular Pathology
Clinical Academic Radiotherapy (Huddart)
Oncogenetics

Notes