Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers Journal Article

   

Authors:	Beesley, J.; Pickett, H. A.; Johnatty, S. E.; Dunning, A. M.; Chen, X.; Li, J.; Michailidou, K.; Lu, Y.; Rider, D. N.; Palmieri, R. T.; Stutz, M. D.; Lambrechts, D.; Despierre, E.; Lambrechts, S.; Vergote, I.; Chang-Claude, J.; Nickels, S.; Vrieling, A.; Flesch-Janys, D.; Wang-Gohrke, S.; Eilber, U.; Bogdanova, N.; Antonenkova, N.; Runnebaum, I. B.; Dörk, T.; Goodman, M. T.; Lurie, G.; Wilkens, L. R.; Matsuno, R. K.; Kiemeney, L. A.; Aben, K. K. H.; Marees, T.; Massuger, L. F. A. G.; Fridley, B. L.; Vierkant, R. A.; Bandera, E. V.; Olson, S. H.; Orlow, I.; Rodriguez-Rodriguez, L.; Cook, L. S.; Le, N. D.; Brooks-Wilson, A.; Kelemen, L. E.; Campbell, I.; Gayther, S. A.; Ramus, S. J.; Gentry-Maharaj, A.; Menon, U.; Ahmed, S.; Baynes, C.; Pharoah, P. D.; Muir, K.; Lophatananon, A.; Chaiwerawattana, A.; Wiangnon, S.; MacGregor, S.; Easton, D. F.; Reddel, R. R.; Goode, E. L.; Chenevix-Trench, G.
Article Title:	Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
Abstract:	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.
Journal Title:	PLoS ONE
Volume:	6
Issue:	9
ISSN:	1932-6203
Publisher:	Public Library of Science
Date Published:	2011-09-01
Start Page:	e24987
Language:	English
DOI:	10.1371/journal.pone.0024987
PROVIDER:	scopus
PMCID:	PMC3174246
PUBMED:	21949822
DOI/URL:	http://www.scopus.com/inward/record.url?eid=2-s2.0-80052846746&partnerID=40&md5=9b4c4f8a1d78746e0de7cbd7195d366f
Notes:	--- - "Export Date: 3 October 2011" - "Source: Scopus"

https://synapse.mskcc.org/synapse/works/has_related_data_chk/12898