Australian Ovarian Cancer Study Group, Peter MacCallum Hospital (Melbourne, Vic.). Cancer Institute, Ovarian Cancer Association (Including:

). (2011) Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS ONE, Vol.6 (No.9). doi:10.1371/journal.pone.0024987 ISSN 1932-6203.

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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.

Item Type:	Journal Article
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine
Divisions:	Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Ovaries -- Cancer -- Genetic aspects, Breast -- Cancer -- Genetic aspects, Epithelial cells
Journal or Publication Title:	PLoS ONE
Publisher:	Public Library of Science
ISSN:	1932-6203
Official Date:	15 September 2011
Dates:	Date Event 15 September 2011 Published
Volume:	Vol.6
Number:	No.9
DOI:	10.1371/journal.pone.0024987
Status:	Peer Reviewed
Publication Status:	Published
Date of first compliant deposit:	18 December 2015
Date of first compliant Open Access:	18 December 2015
Funder:	Ovarian Cancer Research Fund, National Health and Medical Research Council (Australia) (NHMRC), New South Wales State Cancer Council, Cancer Council Western Australia, Anti-Cancer Council of Victoria, Cancer Council Queensland, Cancer Council South Australia, United States. Army Medical Research and Materiel Command, Cancer Council Tasmania, National Breast Cancer Foundation, Nationaal Kankerplan, National Institutes of Health (U.S.) (NIH), Cancer Research UK (CRUK), Deutsche Krebshilfe [German Cancer Aid], Hamburg Cancer Society, Deutsches Krebsforschungszentrum Heidelberg, Germany. Bundesministerium für Bildung und Forschung (BMBF), Universität Ulm. Fakultät für Theoretische Medizin, Workers' Compensation Board of British Columbia, Canadian Institutes of Health Research (CIHR), Cancer Institute of New Jersey, Eve Appeal, OAK Foundation, National Institute for Health Research (Great Britain) (NIHR), Breast Cancer Research Trust (Great Britain)

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