Abstract/Session Information for Program Number 3439T
Session Information Session Title: Cancer Genetics Session Type: Poster Session Location: Exhibit Hall, Level 1, Convention Center Session Time: Thu 10:00AM4:30PM Abstract Information Program Number: 3439T Presentation Time: Thu, Oct 24, 2013, 10:30AM-11:30AM Keywords: Cancer Genetics, KW014 - cancer syndromes, KW049 - epidemiology, KW067 gene families, KW073 - genetic epidemiology, KW076 - genetic testing Abstract Content Prevalence of BRCA1 mutations in hereditary breast/ovarian cancer families and sporadic triple negative breast cancer patients from Algeria. F. Cherbal1, R. Bakour1, W. Abdou1, C. Mehemmai1, K. Gassi1, H. Gaceb1, K. Boualga2, N. Kanoun-Zitouni3, W. Benbrahim4 1) Unit of Genetics, LBCM, Faculty of Biological Sciences, USTHB, Algiers, Algeria; 2) Anti Cancer Center, Blida, Algeria; 3) Central Hospital of Algiers, Algiers, Algeria; 4) Medical Oncology Service, Anti Cancer Center, Batna, Algeria. Background: Breast cancer is the leading cause of cancer death in Algerian women. The present work aimed to establish the frequency of the three most common BRCA1 mutations in Algerian cohort of 96 hereditary breast/ovarian cancer families and sporadic TNBC patients. The identification of common mutations in BRCA genes may facilitate genetic testing and counseling. The three BRCA1 mutations screened have previously been reported in hereditary breast/ovarian cancer families and sporadic breast cancer patients from Algeria. Methods: 66 hereditary breast/ovarian cancer families and 30 sporadic breast cancer patients (most of them had triple negative status) were screened for the recurrent BRCA1 mutations c.181T>G and c.798_799delTT. The BRCA1 mutation c.83_84delTG has been screened in 51 hereditary breast/ovarian cancer families. The approach used is based in PCR-direct sequencing. Results: The BRCA1 mutation c.83_84delTG detected previously in two unrelated Algerian breast cancer patients has been identified here in a young breast cancer patient with a strong
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hereditary breast/ovarian cancer history with the frequency of 1.9% (1/51). Interestingly, the BRCA1 mutation c.83_84delTG has been reported one time in BIC database in Caucasian family, could be specific of Algerian population. The c.181T>G/p.Cys61Gly mutation has been detected here in a young bilateral breast cancer patient with a strong breast cancer family history with the frequency of 1.5% (1/66). To date, the Cys61Gly pathogenic variant is one of the most frequent founder mutation identified in Central European populations, has been previously reported for the first time in Maghrebian population in two Algerian and Moroccan families. In addition, haplotype analysis of Maghrebian and central European carriers of the BRCA1 mutation c.181T>G will establish if the origin of this mutation in Maghrebian populations is linked to the Vandals, an East Germanic tribe, who invaded and established a kingdom in North Africa during the antiquity. The BRCA1 mutation c.798_799delTT detected previously with a frequency of 4.93% in 4 families from Algeria, has not been detected in the present study. The sporadic TNBC patients were negative for the three BRCA1 mutations. Conclusions: the screening for BRCA1 and BRCA2 germline mutations in large series of Algerian breast/ovarian cancer patients/families will allow to know about the frequency, the spectrum and the contribution of the prevalence of BRCA genes mutations.
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