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.