Abstract
3/2005
vol. 4
The role of BRCA1 mutations and G/C polymorphism of RAD51 in breast cancer
Prz Menopauz 2005; 3: 10–14
Online publish date: 2005/06/08
Aim: In present work the frequency of BRCA1 germ-line mutations and the RAD51 G/C polymorphism in patients with breast cancer was investigated.
Methods: Blood was obtained from 50 breast cancer women. Blood samples age matched healthy individuals (n = 46) 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 (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 present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer.
Conclusion: 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.
Methods: Blood was obtained from 50 breast cancer women. Blood samples age matched healthy individuals (n = 46) 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 (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 present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer.
Conclusion: 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.
Keywords
RAD51, BRCA1, breast cancer, gene polymorphism
Coverage in
Indexed in
Integrated with
Editorial Policies
