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.
authors.affiliation: Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jonathan.beesley@qimr.edu.au
authors.forename: Jonathan
authors.initials: J
authors.lastname: Beesley
authors.forename: Hilda A
authors.initials: HA
authors.lastname: Pickett
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Johnatty
authors.forename: Alison M
authors.initials: AM
authors.lastname: Dunning
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Chen
authors.forename: Jun
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authors.forename: Kyriaki
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authors.forename: David N
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authors.lastname: Rider
authors.forename: Rachel T
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authors.lastname: Palmieri
authors.forename: Michael D
authors.initials: MD
authors.lastname: Stutz
authors.forename: Diether
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authors.lastname: Lambrechts
authors.forename: Evelyn
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authors.lastname: Despierre
authors.forename: Sandrina
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authors.lastname: Lambrechts
authors.forename: Ignace
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authors.lastname: Vergote
authors.forename: Jenny
authors.initials: J
authors.lastname: Chang-Claude
authors.forename: Stefan
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authors.lastname: Nickels
authors.forename: Alina
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authors.lastname: Vrieling
authors.forename: Dieter
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authors.lastname: Flesch-Janys
authors.forename: Shan
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authors.lastname: Wang-Gohrke
authors.forename: Ursula
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authors.lastname: Eilber
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authors.lastname: Bogdanova
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authors.lastname: Antonenkova
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authors.lastname: Runnebaum
authors.forename: Thilo
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authors.lastname: Dörk
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authors.lastname: Lurie
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authors.forename: Rayna K
authors.initials: RK
authors.lastname: Matsuno
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authors.lastname: Kiemeney
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authors.lastname: Aben
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authors.lastname: Marees
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authors.lastname: Massuger
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authors.lastname: Fridley
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authors.lastname: Vierkant
authors.forename: Elisa V
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authors.lastname: Bandera
authors.forename: Sara H
authors.initials: SH
authors.lastname: Olson
authors.forename: Irene
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authors.lastname: Orlow
authors.forename: Lorna
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authors.lastname: Rodriguez-Rodriguez
authors.forename: Linda S
authors.initials: LS
authors.lastname: Cook
authors.forename: Nhu D
authors.initials: ND
authors.lastname: Le
authors.forename: Angela
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authors.lastname: Brooks-Wilson
authors.forename: Linda E
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authors.lastname: Kelemen
authors.forename: Ian
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authors.lastname: Campbell
authors.forename: Simon A
authors.initials: SA
authors.lastname: Gayther
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Ramus
authors.forename: Aleksandra
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authors.lastname: Gentry-Maharaj
authors.forename: Usha
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authors.lastname: Menon
authors.forename: Shahana
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authors.lastname: Ahmed
authors.forename: Caroline
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authors.lastname: Baynes
authors.forename: Paul D
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authors.lastname: Pharoah
authors.forename: Kenneth
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authors.lastname: Muir
authors.forename: Artitaya
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authors.lastname: Lophatananon
authors.forename: Arkom
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authors.lastname: Chaiwerawattana
authors.forename: Surapon
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authors.lastname: Wiangnon
authors.forename: Stuart
authors.initials: S
authors.lastname: Macgregor
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Roger R
authors.initials: RR
authors.lastname: Reddel
authors.forename: Ellen L
authors.initials: EL
authors.lastname: Goode
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D018284:Cystadenocarcinoma, Serous / Q000235:genetics*; D005260:Female; D006801:Humans; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase