乳がん：現在の研究

抽象的な

Detection of BRCA1 Founder Mutation 185DELAG in Breast Cancer Patients using Pyrosequencing Technique

Marwa H Saied*, Salsabil El Boraie, Tarek El fayoumy and Dalal El Guizery

Background: Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 is the most common cause of hereditary forms of both breast and ovarian cancer and occurs in all ethnic and racial populations. Till now, no assessments of the BRCA1 founder mutation have been performed by sequencing in Egyptian population. The aim of this pilot study was to detect the prevalence BRCA1 founder mutation 185DELAG in familial and sporadic breast cancer patients. Blood samples of 100 Egyptian female including 40 patients who had no significant family history of BC in their families (sporadic BC), 40 patients had at least 2 positive family history in their first degree relatives (familial BC), 20 control patients with no BC or history of breast cancer in their families. All subjects went for detection for 185DELAG mutation using Pyrosequencing technique. There were significant differences between familial and sporadic BC as regards their age (P=0.004) and in the premenopausal patients in familial BC than sporadic BC (P=0.02). Moreover, sporadic BC showed a significant increase in the ER and PR +ve, HER2/neu -ve (luminal A) than familial BC patients (P=0.012). As regards the mutation, we found a carrier frequency of 2.5% (95% confidence interval 1.1-2.4). There was no significant relation between mutation and type of BC, or between the hormonal profile of BC tumor and 185DELAG carriers.

Conclusion: The prevalence of BRCA1 185AG deletion mutation is significantly lower than previously reported using other molecular techniques.