Polymorphisms and haplotype structures in genes for transforming growth factor β1 and its receptors in familial and unselected breast cancers

International Journal of Cancer - Tập 112 Số 1 - Trang 94-99 - 2004
Qianren Jin1, Kari Hemminki1,2, Ewa Grzybowska3, Ruediger Klaes4, Magnus Söderberg5, Helena Zientek3, J. Rogozińska-Szczepka6, B. Utracka-Hutka7, Jolanta Pamuła‐Piłat3, Wioletta Pękala3, Asta Försti1,2
1Department of Biosciences, Novum, Karolinska Institute, Huddinge, Sweden
2Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany
3Department of Tumor Biology, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
4Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
5Department of Pathology, Huddinge Hospital, Huddinge, Sweden
6I Clinics of Radiotherapy, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland
7Clinics of Chemotherapy, Center of Oncology, Maria Sklodowska-Curie Institute, Gliwice, Poland

Tóm tắt

AbstractAlterations in TGF‐β signaling appear to be associated with an altered risk of developing cancer, including breast cancer. We carried out a case‐control study on 8 polymorphisms, including 5 in the TGF‐β1 gene (G‐800A, C‐509T, Leu10→Pro, Arg25→Pro and Thr263→Ile), a polyalanine polymorphism (9A→6A) in the TGF‐βRI gene and 2 (G‐875A and A‐364G) in the TGF‐βRII gene, using samples from 2 different populations, Polish familial and Finnish unselected breast cancer cases, together with ethnically and geographically matched controls. Additionally, familial breast cancer cases with respective controls from Sweden and Germany were studied in the Leu10→Pro polymorphism, making the total number of familial cases 659. Allele, genotype and haplotype analysis on the TGF‐β1 gene as well as an analysis of the combinations of genotypes of the TGF‐β1 and its receptor genes in each individual were performed. Population differences in the allele and genotype distributions were found from 5 of the polymorphisms and 3 common haplotypes from the TGF‐β1 gene between the Finnish and other populations. However, no statistically significant difference between the breast cancer and healthy control groups was found for any of the 8 polymorphisms nor did the haplotype or genotype combination analysis reach statistical significance. Thus, none of the studied polymorphisms from the TGF‐β1 and its receptor genes was found to influence significantly susceptibility to breast cancer. The possible contribution of 6A/6A homozygosity in the TGF‐βRI gene to breast cancer needs to be confirmed in an independent study. © 2004 Wiley‐Liss, Inc.

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International Journal of Cancer

Tập 112 Số 1

94-99

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