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

• Authors: Janusz Blasiak , Karolina Przybyłowska , Agnieszka Czechowska , Marek Zadrożny , Tomasz Pertyński , Jan Rykała , Agnieszka Kołacińska , Zbigniew Morawiec , Józef Drzewoski
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

genetic polymorphism; RAD51 gene; RFLP-PCR; breast cancer

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2003
• Volume: 50
• Issue: 1
• Pages: 249-253

Dates

published

2003

(unknown)

2002-08-08

revised

2003-02-27

accepted

2003-03-10

Contributors

author

Janusz Blasiak

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Karolina Przybyłowska

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Agnieszka Czechowska

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Marek Zadrożny

• Polish Mother's Memorial Research Institute, Łódź, Poland

author

Tomasz Pertyński

• Polish Mother's Memorial Research Institute, Łódź, Poland

author

Jan Rykała

• Department of Oncological Surgery, N. Copernicus Hospital, Łódź, Poland

author

Agnieszka Kołacińska

• Department of Oncological Surgery, N. Copernicus Hospital, Łódź, Poland

author

Zbigniew Morawiec

• Department of Oncological Surgery, N. Copernicus Hospital, Łódź, Poland

author

Józef Drzewoski

• Department of Clinical Pharmacology, Medical University of Lodz, Łódź, Poland

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