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.

In EOBC, we found significant differences in risk factors, phenotype and a higher incidence of BRCA1 mutations in Southern Europe as compared to North Africa. The worst prognosis previously reported for EOBC in North Africa is more likely due to a higher stage at diagnosis than to a more aggressive phenotype, since triple negative tumors are more common in Southern Europe and advanced tumors in North Africa.

Abstract:Background: Actually, Breast cancer constitutes one of the most health problems in Algeria, and the leading cause of death among Algerian women. Breast cancer in young women is a rare form, but it has an aggressive behavior associated with a poor prognosis. Aims: this study focuses to report breast cancers phenotype in Algerian younger women. Material and methods: In order to better understand the determinants and tumor biology may explain earlier onset and aggressive breast cancers characteristics in Algeria from December 2011 to July 2014, 135 patients aged 40 years and under diagnosed with breast cancer were included in the study. Results: One hundred thirty-five women recorded, 65.9% patients were aged between 36-40 years. The mean age was 36.29 years. A significantly higher proportion of women were overweight or obese (62.9%). 75.6% patientshad full-term pregnancy. 29.6% breast cancers were diagnosed during pregnancy or after childbirth. 34.1% patients had a family history. In 87.4% of cases the revealing sign was nodule self-examination. Stage II and III associated with nodal extension, higher pathological grade, HR positive, were predominant. Neo-adjuvant was administered to 17.8%. 74.1%patients underwent radical mastectomy using Patey technique with complete axillary dissection.40.7% patients had distal metastases after diagnosis. The mean clinical tumor size was 4.88 cm.71.1% of tumors were invasive ductal carcinoma.69.9% patients had no family history. Conclusion: Breast tumors among Algerian young women are advanced with poor prognosis.

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