A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer

Varadi, Verena (author): Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld ,Heidelberg, Germany

Brendle, Annika (author): Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld, Heidelberg, Germany

Grzybowska, Ewa (author): Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland

Butkiewicz, Dorota (author): Department of Tumor Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland

Pamula-Pilat, Jolanta (author): Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland

Pekala, Wioletta (author): Department of Molecular Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland

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

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

(creator_code:org_t)

Elsevier, 2009
2009
English.
In: Cancer Genetics and Cytogenetics. - : Elsevier. - 0165-4608 .- 1873-4456. ; 190:2, s. 71-74

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; http://kipublication...; show less...

Abstract Subject headings

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.

By the author/editor: Varadi, Verena; Brendle, Annika; Grzybowska, Ewa; Johansson, Rober ...; Enquist, Kerstin; Butkiewicz, Doro ...; show more...; Pamula-Pilat, Jo ...; Pekala, Wioletta; Hemminki, Kari; Lenner, Per; Försti, Asta; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Health Sciences; and Nutrition and Di ...

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