@Article{Kulig2004,
journal="Menopause Review/Przegląd Menopauzalny",
issn="1643-8876",
volume="3",
number="5",
year="2004",
title="Genetics  research of apoptosis and BRCA1 gene mutations in patients from family with hereditary breast cancer",
abstract=" 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.",
author="Kulig, Andrzej
and Smolarz, Beata
and Westfal, Bogusław
and Kozłowska, Elżbieta
and Romanowicz-Makowska, Hanna
and Zadrożny, Marek
and Pertyński, Tomasz
and Stetkiewicz, Tomasz",
pages="19--23",
url="https://www.termedia.pl/Genetics-research-of-apoptosis-and-BRCA1-gene-mutations-in-patients-from-family-with-hereditary-breast-cancer,4,2635,1,1.html"
}