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Sunday 26 May 2013

PR domain containing 14


- SNPs at 3p24.3 shows association with TGCT (23666240)

  • SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) show 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 as 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.
  • PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation.


- Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 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. Nat Genet. 2013 May 12. doi : 10.1038/ng.2635 PMID: ‘23666240