Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco
| Autor: | ElMostafa El Fahime, Jaime Martinez De Villarreal, Amina Barakat, Carlos Cortijo Bringas, Touria Derkaoui, Mohcine Bennani Mechita, Joaira Bakkach, Mohamed Mansouri, Naima Ghailani Nourouti, Ali Loudiyi |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology Adult Cancer Research medicine.medical_specialty Genetic testing endocrine system diseases Genetic counseling Nonsense mutation Breast Neoplasms medicine.disease_cause lcsh:RC254-282 03 medical and health sciences Young Adult 0302 clinical medicine Breast cancer Germline mutation Internal medicine Genetics medicine Humans Genetic Predisposition to Disease Family history Age of Onset skin and connective tissue diseases Germline mutations Germ-Line Mutation BRCA2 Protein Mutation medicine.diagnostic_test business.industry BRCA1 Protein BRCA mutation medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens BRCA1 BRCA2 Morocco 030104 developmental biology 030220 oncology & carcinogenesis Female Young women business Research Article |
| Zdroj: | BMC Cancer BMC Cancer, Vol 20, Iss 1, Pp 1-8 (2020) |
| ISSN: | 1471-2407 |
| Popis: | Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale. |
| Databáze: | OpenAIRE |
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