Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran

Background: The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) foundermutations in familial breast cancer (BC) patients with high risks in Iran. BRCA1 is among the cancer susceptibilitygenes best known for high penetrance mutations. BRCA1 genotyping is now used to determine patient counseling,management decisions, and prognosis of this syndrome. Materials and
Method: Thirty nine patients with clinicalBC and 29 high risk healthy women, related to the patients, participated in the study. DNA from blood sampleswas extracted and analyzed by PCR and SSCP methods in order to find 185delAG and 5382insC foundermutations. In addition, a 251bp fragment of BRCA1’s exon 11 was amplified and analyzed for determination ofnew mutations.
Results: The data indicated the presence of 185delAG and 5382insC founder mutations in bothgroups studied. Two out of 39 BC patients (5.1%) and one out of 29 relatives (3.4%) were suspected to be carriersof 185delAG mutations. However, we found only one patient (2.6%) to be a carrier of a 5382insC mutation. Also,2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarifiedmutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a highlifetime risk of breast cancer.
Conclusions: Therefore, these data are useful in counseling of individuals with asignificant family history of breast cancer.