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Transforming growth factor-β1 genotype in sporadic breast cancer patients from India: status of enhancer, promoter, 5′-untranslated-region and exon-1 polymorphisms.
- Source :
-
European Journal of Immunogenetics . Feb2004, Vol. 31 Issue 1, p37-42. 6p. - Publication Year :
- 2004
-
Abstract
- Transforming growth factor beta (TGF-β) is an example for a large and still-growing family of growth factors. TGF-β1 is known to act both as a tumour suppressor and as a stimulator of tumour progression. This study examines the relationship amongst putative enhancer, promoter, 5′-untranslated-region (UTR) and exon-1 polymorphisms of the TGF-β1 gene (region I from −1881 to −1613; region II from −1410 to −1123, and region III from −55 to +176, as per human genome organisation (HUGO) nomenclature) in 26 breast cancer patients and 97 healthy control subjects. The germline and somatic status of the four known polymorphisms was ascertained, and a significant difference was observed for the germline C/T and T/T genotype distribution between patients and controls in comparison to C/C genotypes at position −1349 (χ2 = 6.193; P = 0.009). In addition to the somatic variations observed for some of the regions studied, in 10/26 (38%) sporadic breast cancer cases, a novel somatic mutation in codon 47 of exon 1 (GenBank accession number ) was also detected in tumour samples. The risk of cancer was found to be significant (OR = 4.525) for the −1349 C/T and T/T genotype background, suggesting that this genetic background may act as a risk factor for sporadic breast cancer. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09607420
- Volume :
- 31
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- European Journal of Immunogenetics
- Publication Type :
- Academic Journal
- Accession number :
- 12408099
- Full Text :
- https://doi.org/10.1111/j.1365-2370.2004.00442.x