title: Analysis of the G/C polymorphism in the 5'-untranslated region of the RAD51 gene in breast cancer.
abstract: 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.
authors.affiliation: Department of Molecular Genetics, University of Lodz, Lodz, Poland. januszb@biol.uni.lodz.pl
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.forename: Karolina
authors.initials: K
authors.lastname: Przybyłowska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Czechowska
authors.forename: Marek
authors.initials: M
authors.lastname: Zadrozny
authors.forename: Tomasz
authors.initials: T
authors.lastname: Pertyński
authors.forename: Jan
authors.initials: J
authors.lastname: Rykała
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kołacińska
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Morawiec
authors.forename: Józef
authors.initials: J
authors.lastname: Drzewoski
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000368:Aged; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000097:blood; D004254:DNA Nucleotidyltransferases / Q000235:genetics; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008207:Lymphatic Metastasis; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017698:Postmenopause; D051135:Rad51 Recombinase; D012016:Reference Values; D015183:Restriction Mapping
chemical_list: D020121:5' Untranslated Regions; D017931:DNA Primers; D004268:DNA-Binding Proteins; D004247:DNA; D004254:DNA Nucleotidyltransferases; C495153:RAD51 protein, human; D051135:Rad51 Recombinase