eISSN: 2299-0038
ISSN: 1643-8876
Menopause Review/Przegląd Menopauzalny
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SCImago Journal & Country Rank
 
5/2004
vol. 3
 
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abstract:

Genetics research of apoptosis and BRCA1 gene mutations in patients from family with hereditary breast cancer

Andrzej Kulig
,
Beata Smolarz
,
Bogusław Westfal
,
Elżbieta Kozłowska
,
Hanna Romanowicz-Makowska
,
Marek Zadrożny
,
Tomasz Pertyński
,
Tomasz Stetkiewicz

Prz Menopauz 2004; 5: 19-23
Online publish date: 2004/10/22
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Purpose: Susceptibility to breast cancer appears to be linked to germ-line mutations in genes causing various familial cancer syndromes. Moreover apoptotic cell death plays a central role in the pathogenesis and disease progression of this cancer. The objectives of this study were to determine apoptosis and the frequency of BRCA1 germ-line mutations in patients with family history of breast cancer.
Materials and methods: The study population consisted of 30 patients from breast cancer family and 30 control samples. Patients completed a family history questionnaire and provided blood for mutation analysis.
Results: Out of the 30 investigated samples, 11 (or 37%) were found to be apoptosis positive compared as 13% control. One Ex20insC and two ExII17delA mutations of BRCA1 gene were identified in apoptosis positive samples from breast cancer families.
Conlusion: Genetic alterations seem to be a risk factor of breast cancer in subjects belonged to breast cancer families with high incidence of this cancer. The lack of detectable germ-line mutations in most cases suggests that there are probably additional, as yet unidentified genes predisposing to this disease.
keywords:

breast cancer, BRCA1 gene, apoptosis, PCR

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