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Analysis of the G/C polymorphism in the 5'-untranslated region of the RAD51 gene in breast cancer.

100%

Blasiak J. , Przybyłowska K. , Czechowska A. , Zadrożny M. , Pertyński T. , Rykała J. , Kołacińska A. , Morawiec Z. , Drzewoski J.

Acta Biochimica Polonica

2003

tom 50

nr 1

249-253

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.

Identyfikacja mutacji w genach BRCA1 i BRCA2

89%

Pamuła-Piłat J.

Laboratorium - Przegląd Ogólnopolski

2013

tom nr 7-8

38--42

Mutacje w genach BRCA1 i BRCA2 predysponują do zachorowania na nowotwór złośliwy piersi i jajnika. W populacji polskiej najczęściej stwierdza się występowanie mutacji c.5266dupC (5382insC) i c.181T>G (300T>G) w genie BRCA1. W artykule opisano przykłady zastosowania wybranych metod opartych na reakcji PCR do identyfikacji najczęstszych mutacji w genach BRCA1 i BRCA2.

Mutations in the BRCA1 and BRCA2 genes are associated with increased risk of breast and ovarian cancer. In Poland, the most frequent mutations are c.5266dupC (5382insC) and c.181T>G (300T>G) in the BRCA1 gene. The article presents selected methods based on the polymerase chain reaction used for detection the most frequent mutations in BRCA1 and BRCA2 genes.