Affiliations: Unit of Genetics, Laboratory of Molecular and Cellular
Biology, Faculty of Biological Sciences, University of Sciences and Technology
"Houari Boumediene" Algiers, Algeria | Central Hospital of Algiers, Algeria | Anti Cancer Center, Blida, Algeria | Laboratory of Molecular Oncology, Department of
Genetics and Laboratory Medicine, Geneva University Hospitals, Geneva,
Switzerland
Note: [] Corresponding author: Dr. Farid Cherbal, Unit of Genetics,
USTHB, POB 32 El Alia, Bab Ezzouar, 16111 Algiers, Algeria. Tel.:
+213 212 479 50/64 extension 911, Fax: +213 212 472 17; E-mail: [email protected]
Abstract: Background: Breast cancer is the leading cause of cancer death in
women in Algeria. The contribution of BRCA1 and BRCA2 mutations to
hereditary breast/ovarian cancer in Algerian population is largely unknown.
Here, we describe analysis of BRCA1 and BRCA2 genes in 86
individuals from 70 families from an Algerian cohort with a personal and family
history suggestive of genetic predisposition to breast cancer. Methods: The approach used is based on BRCA1 and BRCA2 mutations screening
by High-Resolution Melting (HRM) curve analysis followed by direct sequencing.
All samples for which no pathogenic mutation was found were analyzed by MLPA
for large deletions or duplications. Results: Three distinct pathogenic
mutations c.83_84delTG, c.181T>G, c.798_799delTT and two large
rearrangements involving deletion of exon 2 and exon 8 respectively, were
detected in BRCA1 gene. Moreover 17 unclassified variants and
polymorphisms were detected in BRCA1 gene (6 described for the first
time). Two pathogenic mutations, c.1310_1313delAAGA and c.5722_5723delCT
and 40 unclassified variants and polymorphisms (14 never described before) were
identified in BRCA2 gene. Conclusions: For the first time, we used
HRM and MLPA to identify BRCA1 and BRCA2 mutations in Algerian
patients with a personal and family history suggestive of genetic
predisposition to breast cancer. The implications of these new findings in
regard to genetic testing and counseling are substantial for the Algerian population.
Keywords: Algeria, BRCA1, BRCA2, hereditary breast cancer, mutation analysis
