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A functional promot...
A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer
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- Varadi, Verena (author)
- Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld ,Heidelberg, Germany
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- Brendle, Annika (author)
- Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld, Heidelberg, Germany
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- Grzybowska, Ewa (author)
- Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
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- Johansson, Robert (author)
- Umeå universitet,Onkologi
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- Enquist, Kerstin (author)
- Umeå universitet,Näringsforskning
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- Butkiewicz, Dorota (author)
- Department of Tumor Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
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- Pamula-Pilat, Jolanta (author)
- Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
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- Pekala, Wioletta (author)
- Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
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- Hemminki, Kari (author)
- Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld, Heidelberg, Germany,Center for Family and Community Medicine, Karolinska Institute, Huddinge, Sweden
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- Lenner, Per (author)
- Umeå universitet,Onkologi
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- Försti, Asta (author)
- Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld, Heidelberg, Germany,Center for Family and Community Medicine, Karolinska Institute, Huddinge, Sweden
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(creator_code:org_t)
- Elsevier, 2009
- 2009
- English.
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In: Cancer Genetics and Cytogenetics. - : Elsevier. - 0165-4608 .- 1873-4456. ; 190:2, s. 71-74
- Related links:
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Abstract
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- Telomere dysfunction is a key mechanism in cancer development. The human telomerase reverse transcriptase (TERT) is the rate-limiting catalytic subunit of the telomerase enzyme, which is necessary for the maintenance of telomere DNA length, chromosomal stability, and cellular immortality. In our attempt to identify functional polymorphisms in the TERT gene and their effect on breast cancer risk, we sequenced the promoter of the gene and identified three single nucleotide polymorphisms (SNPs) with a frequency of at least 10%. One of these SNPs, rs2853669 (-244 T > C), has been shown to affect telomerase activity and telomere length. Recently, this SNP has been suggested to affect familial breast cancer risk. In our case-control study using two large breast cancer sample series, including one with 841 cases with inherited susceptibility to breast cancer, we did not find any association with familial or sporadic breast cancer risk. This well-powered study excludes an effect of the functional -244 T > C SNP and two other correlated SNPs on breast cancer risk.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Näringslära (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nutrition and Dietetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Varadi, Verena
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Brendle, Annika
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Grzybowska, Ewa
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Johansson, Rober ...
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Enquist, Kerstin
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Butkiewicz, Doro ...
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show more...
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Pamula-Pilat, Jo ...
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Pekala, Wioletta
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Hemminki, Kari
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Lenner, Per
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Försti, Asta
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Nutrition and Di ...
- Articles in the publication
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Cancer Genetics ...
- By the university
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Umeå University
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Karolinska Institutet