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Page 1
The 8q24 rs6983267G variant is associated with increased thyroid cancer risk.
Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A, Neta G, Takahasi M, Saenko V, Mitsutake N; JTCMS Consortium; Jaeguer E, Duque CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I; CORGI Consortium; TCUKIN Consortiums; Carmona LG. Sahasrabudhe R, et al. Endocr Relat Cancer. 2015 Oct;22(5):841-9. doi: 10.1530/ERC-15-0081. Epub 2015 Aug 19. Endocr Relat Cancer. 2015. PMID: 26290501 Free PMC article.
Methadone use in a male with the FMRI premutation and FXTAS.
Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ. Muzar Z, et al. Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900641 Free PMC article.
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; SLI Consortium; Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Villanueva P, et al. PLoS Genet. 2015 Mar 17;11(3):e1004925. doi: 10.1371/journal.pgen.1004925. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25781923 Free PMC article.
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.
Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Pooley K, Beesley J, Cheng T, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); Australian National Endometrial Cancer Study Group (ANECS); Wentzensen N, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Scott RJ, Ashton K, Proietto T, Otton G, Wersäll O, Mints M, Tham E; RENDOCAS; Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; GENICA Network; Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Carvajal-Carmona LG, et al. Hum Genet. 2015 Feb;134(2):231-45. doi: 10.1007/s00439-014-1515-4. Epub 2014 Dec 9. Hum Genet. 2015. PMID: 25487306 Free PMC article. Clinical Trial.