AIM: 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. 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.
AIM: 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 cancerwomen 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. 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.
Authors: Nancy Hamel; Bing-Jian Feng; Lenka Foretova; Dominique Stoppa-Lyonnet; Steven A Narod; Evgeny Imyanitov; Olga Sinilnikova; Laima Tihomirova; Jan Lubinski; Jacek Gronwald; Bohdan Gorski; Thomas v O Hansen; Finn C Nielsen; Mads Thomassen; Drakoulis Yannoukakos; Irene Konstantopoulou; Vladimir Zajac; Sona Ciernikova; Fergus J Couch; Celia M T Greenwood; David E Goldgar; William D Foulkes Journal: Eur J Hum Genet Date: 2010-12-01 Impact factor: 4.246