Analysis of RAD51 polymorphism and BRCA1 mutations in Polish women with breast cancer.
OBJECTIVE
Breast cancer is one of the major killers worldwide. The objectives of this study were to determine the frequency of BRCA1 germ-line mutations and the RAD51 G/C polymorphism in patients with breast cancer.


METHODS
100 breast cancer women provided blood for mutation analysis. Blood samples age matched healthy individuals (n = 106) served as control. The G/C polymorphism and BRCA1 mutations were determined by PCR-RFLP methods.


RESULTS
The distribution of the genotypes of the G/C polymorphism RAD51 in both control and patients did not differ significantly 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 present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer.


CONCLUSIONS
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.
Romanowicz-Makowska
H
H
Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland.
Smolarz
B
B
Zadrozny
M
M
Kulig
A
A
D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D009154:Mutation; D011044:Poland; D011110:Polymorphism, Genetic; D051135:Rad51 Recombinase / Q000235:genetics*
D019313:BRCA1 Protein; D051135:Rad51 Recombinase