Analysis of the G/C polymorphism in the 5′-untranslated region of the RAD51 gene in breast cancer

被引:0
|
作者
Blasiak, J
Przybylowska, K
Czechowska, A
Zadrozny, M
Pertynski, T
Rykala, J
Kolacinska, A
Morawiec, Z
Drzewoski, J
机构
[1] Univ Lodz, Dept Mol Genet, PL-90237 Lodz, Poland
[2] Polish Mothers Mem Res Inst, Lodz, Poland
[3] N Copernicus Hosp, Dept Surg Oncol, Lodz, Poland
[4] Med Univ Lodz, Dept Clin Pharmacol, Lodz, Poland
关键词
RAD51; gene; genetic polymorphism; breast cancer; RFLP-PCR;
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The breast cancer suppressor proteins BRCA1 and BRCA2 interact with RAD51, a protein essential for maintaining genomic stability by playing a central role in homology-dependent recombinational repair of the DNA double-strand breaks. Therefore, genetic variability in the RAD51 gene may contribute to the appearance and/or progression of breast cancer. A single nucleotide polymorphism in the 5'- untranslated region of RAD51 (a G to C substitution at position 135, the G/C polymorphism) is reported to modulate breast cancer risk. We investigated the distribution of genotypes and frequency of alleles of the G/C polymorphism. in breast cancer. Tumor tissues were obtained from postmenopausal women with node-negative and node-positive breast carcinoma with uniform tumor size. Blood samples from age matched healthy women served as control. The G/C polymorphism was determined by PCR-based MvaI restriction fragment length polymorphism. The distribution of the genotypes of the G/C polymorphism did not differ significantly (P > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no differences in the genotype distribution and allele frequencies between node-positive and node-negative patients. There were no significant differences between distributions of the genotypes in subgroups assigned to histological grades according to Scarf-Bloom-Richardson criteria and the distribution predicted by Hardy-Weinberg equilibrium (P > 0.05). Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and/or progression of breast cancer and so it may not be useful as an independent marker in this disease.
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页码:249 / 253
页数:5
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