Frequency of BRCA1 Mutations in B&H Breast and Ovarian Cancer Patients

摘要: Incidence of breast cancer ranges from 27 per 100,000 in Middle Africa and Eastern Asia to 92 Northern America. It is the fifth most common cause death women, with an estimated 522,000 deaths year (6.4% total). Autosomal dominant inheritance these cancers characterized by transmission predisposition generation generation, around 5-10% all being associated inherited mutations BRCA1, BRCA2 other genes.  Breast ovarian are strongly BRCA1 mutations. In this study, we genotyped gene for large genomic rearrangements patients Bosnia Herzegovina, aim assess frequency (exon deletions/duplications) group. We collected 59 samples, as well data concerning patients’ histopathological parameters tumor, like age at diagnosis, type, TNM class, grade, estrogen, progesterone Her2/neu expression. Following DNA extraction samples (tissue after biopsy), were identified Multiplex Ligase - Dependent Probe Amplification (MLPA) analysis. Biostatistical analyses conducted using MedCalc v.9.2.0.0 software. statistical tests p<0.05 was considered significant. Mean diagnosis 54±1.75 (range 17 – 80). found 22% patients. Statistically significant associations correlations between expression, but not size, invasiveness or