Functional Polymorphisms In The Tert Promoter Are Associated With Risk Of Serous Epithelial Ovarian And Breast Cancers

Beesley Jonathan,Pickett Hilda A,Johnatty Sharon E,Dunning Alison M,Chen Xiaoqing,Li Jun,Michailidou Kyriaki,Lu Yi,Rider David N,Palmieri Rachel T,Stutz Michael D,Lambrechts Diether,Despierre Evelyn,Lambrechts Sandrina,Vergote Ignace,Chang-Claude Jenny,Nickels Stefan,Vrieling Alina,Flesch-Janys Dieter,Wang-Gohrke Shan,Eilber Ursula,Bogdanova Natalia,Antonenkova Natalia,Runnebaum Ingo B,Dörk Thilo,Goodman Marc T,Lurie Galina,Wilkens Lynne R,Matsuno Rayna K,Kiemeney Lambertus A,Aben Katja K H,Marees Tamara,Massuger Leon F A G,Fridley Brooke L,Vierkant Robert A,Bandera Elisa V,Olson Sara H,Orlow Irene,Rodriguez-Rodriguez Lorna,Cook Linda S,Le Nhu D,Brooks-Wilson Angela,Kelemen Linda E,Campbell Ian,Gayther Simon A,Ramus Susan J,Gentry-Maharaj Aleksandra,Menon Usha,Ahmed Shahana,Baynes Caroline,Pharoah Paul D, Null Null,Muir Kenneth,Lophatananon Artitaya,Chaiwerawattana Arkom,Wiangnon Surapon,Macgregor Stuart,Easton Douglas F,Reddel Roger R,Goode Ellen L,Chenevix-Trench Georgia, Null Null

PLOS ONE（2011）

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摘要

Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity.

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关键词

engineering,chemistry,genetic variation,biology,physics,telomerase,polymorphism,breast cancer,genome wide association,single nucleotide polymorphism,snps,case control studies,medicine

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