The role of BRCA1 mutations and G/C polymorphism of RAD51 in breast cancer

Hanna Romanowicz-Makowska; Anna Sobczuk; Beata Smolarz; Marek Zadrożny; Bogusław Westfal; Tomasz Stetkiewicz; Andrzej Kulig

eISSN: 2299-0038
ISSN: 1643-8876

Menopause Review/Przegląd Menopauzalny

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3/2005
vol. 4

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abstract:

The role of BRCA1 mutations and G/C polymorphism of RAD51 in breast cancer

Hanna Romanowicz-Makowska

,

Anna Sobczuk

,

Beata Smolarz

,

Marek Zadrożny

,

Bogusław Westfal

,

Tomasz Stetkiewicz

,

Andrzej Kulig

Prz Menopauz 2005; 3: 10–14

Online publish date: 2005/06/08

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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.

keywords:

The role of BRCA1 mutations and G/C polymorphism of RAD51 in breast cancer

Hanna Romanowicz-Makowska , Anna Sobczuk , Beata Smolarz , Marek Zadrożny , Bogusław Westfal , Tomasz Stetkiewicz , Andrzej Kulig

RAD51, BRCA1, breast cancer, gene polymorphism

Hanna Romanowicz-Makowska

,

Anna Sobczuk

,

Beata Smolarz

,

Marek Zadrożny

,

Bogusław Westfal

,

Tomasz Stetkiewicz

,

Andrzej Kulig