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Polymorphisms and haplotype structures in genes for transforming growth factor β1 and its receptors in familial and unselected breast cancers
Author(s) -
Jin Qianren,
Hemminki Kari,
Grzybowska Ewa,
Klaes Rüdiger,
Söderberg Magnus,
Zientek Helena,
RogozinskaSzczepka Jadwiga,
UtrackaHutka. Beata,
Pamula Jolanta,
Pekala Wioletta,
Försti Asta
Publication year - 2004
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.20370
Subject(s) - haplotype , breast cancer , genotype , allele , genetics , biology , transforming growth factor , case control study , allele frequency , gene , oncology , cancer , cancer research , medicine , endocrinology
Alterations 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, Leu 10 →Pro, Arg 25 →Pro and Thr 263 →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 Leu 10 →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.