Germline BRCA1 mutations and G/C polymorphism in the 5'-untranslated region of the RAD51 gene in Polish women with breast cancer.
Breast cancer is a significant cause of morbidity and mortality in Western countries. In the present work the distribution of genotypes and frequency of alleles of the RAD51 G/C polymorphism and the frequency of BRCA1 germ-line mutations in patients with breast cancer were investigated. One hundred breast cancer women provided blood for mutation analysis. Blood samples from age matched healthy individuals (n=106) served as control. The G/C polymorphism and BRCA1 mutations were determined by PCR-RFLP methods. The distribution of the genotypes of the G/C polymorphism RAD51 in both control and patients did not differ significantly (P>0.05) from those predicted by the Hardy-Weinberg distribution. There were no significant differences in the genotype distributions and allele frequencies between node-positive and node-negative patients. In the present study one Ex20insC mutation of BRCA1 gene was identified in women with breast cancer. 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. The lack of detectable BRCA1 germ-line mutations in most cases suggests that there are probably additional, as yet unidentified genes predisposing to this disease.
Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lódź. smolbea@wp.pl
Hanna
H
Romanowicz-Makowska
Beata
B
Smolarz
Andrzej
A
Kulig
D020121:5' Untranslated Regions; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D019398:Genes, BRCA1; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051135:Rad51 Recombinase / Q000235:genetics*
D020121:5' Untranslated Regions; D004273:DNA, Neoplasm; C495153:RAD51 protein, human; D051135:Rad51 Recombinase