BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.

Autor: Zoure AA; Pietro Annigoni Biomolecular Research Center (CERBA)/LABIOGENE, University of Ouaga1 Pr Joseph KI ZERBO, UFR/SVT, Burkina Faso.; Laboratoiry of Biochemistry and Immunology, Faculty of Sciences, University of Mohammed V, Rabat, Morocco.; Institute of Health Sciences Research (IRSS/CNRST)/Department of Biomedical and Public Health, Burkina Faso., Slaoui M; Equipe of research ONCOGYMA, University of Mohamed V, Faculty of Medicine and Pharmacy of Rabat, Morocco., Bambara HA; Service of oncology, University Hospital Yalgado Ouédraogo, Burkina Faso., Sawadogo AY; Service of Gynecology, University Hospital Yalgado Ouédraogo, Burkina Faso., Compaoré TR; Pietro Annigoni Biomolecular Research Center (CERBA)/LABIOGENE, University of Ouaga1 Pr Joseph KI ZERBO, UFR/SVT, Burkina Faso., Ouédraogo NLM; Service of General Surgery and Digestive, University Hospital Yalgado Ouédraogo, Burkina Faso., Mzibri ME; Biology Unit and Medical Research, CNESTEN, Rabat, Morocco., Attaleb M; Biology Unit and Medical Research, CNESTEN, Rabat, Morocco., Traoré SS; Service of General Surgery and Digestive, University Hospital Yalgado Ouédraogo, Burkina Faso., Simpore J; Pietro Annigoni Biomolecular Research Center (CERBA)/LABIOGENE, University of Ouaga1 Pr Joseph KI ZERBO, UFR/SVT, Burkina Faso., Bakri Y; Laboratoiry of Biochemistry and Immunology, Faculty of Sciences, University of Mohammed V, Rabat, Morocco.
Jazyk: angličtina
Zdroj: Journal of public health in Africa [J Public Health Afr] 2018 Jul 06; Vol. 9 (1), pp. 663. Date of Electronic Publication: 2018 Jul 06 (Print Publication: 2018).
DOI: 10.4081/jphia.2018.663
Abstrakt: The worldwide variation of BRCA mutations is well known. The c.68_69delAG, c.181T>G, c.798_799delTT mutations in BRCA1 were observed in Moroccan, Algerian and Tunisian Breast Cancer families and were described founder mutation in Northern Africa. The 943ins10 is also recognized a founder mutation in West Africa. To our knowledge no study has been published on BRCA1/2 germline mutations and hereditary breast cancer (HBC) in population of Burkina Faso. The aim of the present study (first in Burkina Faso) was to screen for these four mutations in 15 unrelated patients with HBC. Mutation analysis was performed by Sanger sequencing of coding exon2, Exon5 and exon11A sequences of the BRCA1 gene. Blood specimens of 15 patients from Burkina Faso, with HBC were collected at the University Hospital Yalgado OUEDRAOGO (CHU-YO) of Ouagadougou in Burkina Faso. c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations were not detected in any of the 15 women diagnosed with family breast cancer history. Genetic analysis in this study, we show that targeting relevant exons in BRCA1 genes did not allow detection of mutations in the population of Burkina Faso. Therefore, such an approach may be of interest to perfom a complete sequencing of BRCA1 and BRCA2 genes in families at a high risk of developing breast cancer in Burkina Faso.
Competing Interests: Conflict of interest: the authors declare no conflict of interest.
Databáze: MEDLINE
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