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

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

doi:10.1371/journal.pone.0024987

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

Journal article

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

Jonathan Beesley, Hilda A Pickett, Sharon E Johnatty, Alison M Dunning, Xiaoqing Chen, Jun Li, Kyriaki Michailidou, Yi Lu, David N Rider, Rachel T Palmieri, …

PloS one, Vol.6(9), pp.e24987-e24987

2011

DOI: https://doi.org/10.1371/journal.pone.0024987

PMCID: PMC3174246

PMID: 21949822

Abstract

Breast Neoplasms - genetics

Case-Control Studies

Cystadenocarcinoma, Serous - genetics

Female

Humans

Neoplasms, Glandular and Epithelial - genetics

Ovarian Neoplasms - genetics

Polymorphism, Single Nucleotide - genetics

Prognosis

Telomerase - genetics

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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Title: Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
Creators: Jonathan Beesley - Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jonathan.beesley@qimr.edu.au
Hilda A Pickett
Sharon E Johnatty
Alison M Dunning
Xiaoqing Chen
Jun Li
Kyriaki Michailidou
Yi Lu
David N Rider
Rachel T Palmieri
Michael D Stutz
Diether Lambrechts
Evelyn Despierre
Sandrina Lambrechts
Ignace Vergote
Jenny Chang-Claude
Stefan Nickels
Alina Vrieling
Dieter Flesch-Janys
Shan Wang-Gohrke
Ursula Eilber
Natalia Bogdanova
Natalia Antonenkova
Ingo B Runnebaum
Thilo Dörk
Marc T Goodman
Galina Lurie
Lynne R Wilkens
Rayna K Matsuno
Lambertus A Kiemeney
Katja K H Aben
Tamara Marees
Leon F A G Massuger
Brooke L Fridley
Robert A Vierkant
Elisa V Bandera
Sara H Olson
Irene Orlow
Lorna Rodriguez-Rodriguez
Linda S Cook
Nhu D Le
Angela Brooks-Wilson
Linda E Kelemen
Ian Campbell
Simon A Gayther
Susan J Ramus
Aleksandra Gentry-Maharaj
Usha Menon
Shahana Ahmed
Caroline Baynes
Paul D Pharoah
Kenneth Muir
Artitaya Lophatananon
Arkom Chaiwerawattana
Surapon Wiangnon
Stuart Macgregor
Douglas F Easton
Roger R Reddel
Ellen L Goode
Georgia Chenevix-Trench
Australian Ovarian Cancer Study Group
Publication Details: PloS one, Vol.6(9), pp.e24987-e24987
Date published: 2011
Grant note: C1287/A10118 / Cancer Research UK A10119 / Cancer Research UK Department of Health G0801875 / Medical Research Council A10124 / Cancer Research UK R01 CA58598 / NCI NIH HHS CIHR C8197/A10123 / Cancer Research UK K22 CA138563 / NCI NIH HHS P50 CA136939 / NCI NIH HHS C490/A11021 / Cancer Research UK N01-PC-67001 / NCI NIH HHS R01CA83918 / NCI NIH HHS K07 CA095666 / NCI NIH HHS P50 CA136393 / NCI NIH HHS R01 CA122443 / NCI NIH HHS R01 CA058598 / NCI NIH HHS 10124 / Cancer Research UK 10118 / Cancer Research UK 11022 / Cancer Research UK N01-CN-55424 / NCI NIH HHS R01 CA083918 / NCI NIH HHS
Academic Unit: Cancer Epidemiology and Health Outcomes
Language: English
Resource Type: Journal article
Identifiers: 991031665928004646