Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer

Breast cancer is the most common female malignancy and the leading cancer mortality cause among Algerian women. Germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast cancer have not been clearly identified within the Algerian population. It is necessary to study the BRC...

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Bibliographic Details
Published in:Disease markers 2016-01, Vol.2016 (2016), p.1-7
Main Authors: Rouabah, Leila, Serrar, Nedda, Reggad, Rym, Bensalem, Assia, Henouda, Sarra, Pujol, Pascal
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Algeria
Biochemistry, Molecular Biology
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Cancer
Care and treatment
Development and progression
Early Detection of Cancer
Female
Gene mutations
Genetic aspects
Genomics
Germ-Line Mutation
Health aspects
Humans
Life Sciences
Pedigree
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Summary:Breast cancer is the most common female malignancy and the leading cancer mortality cause among Algerian women. Germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast cancer have not been clearly identified within the Algerian population. It is necessary to study the BRCA1/2 genes involvement in the Algerian breast cancer occurrence. We performed this study to define germline mutations in BRCA1/2 and their implication in breast cancer among young women from eastern Algeria diagnosed or treated with primary invasive breast cancer at the age of 40 or less who were referred to Anti-Cancer Center of Setif, Algeria. Case series were unselected for family history. Eight distinct pathogenic mutations were identified in eight unrelated families. Three deleterious mutations and one large genomic rearrangement involving deletion of exon 2 were found in BRCA1 gene. In addition, four mutations within the BRCA2 gene and one large genomic rearrangement were identified. Novel mutation was found among Algerian population. Moreover, five variants of uncertain clinical significance and favor polymorphisms were identified. Our data suggest that BRCA1/2 mutations are responsible for a significant proportion of breast cancer in Algerian young women.
ISSN:0278-0240
1875-8630
DOI:10.1155/2016/7869095