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BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso
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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057717/ https://www.ncbi.nlm.nih.gov/pubmed/30079159 http://dx.doi.org/10.4081/jphia.2018.663 |
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author | Zoure, Abdou Azaque Slaoui, Meriem Bambara, Hierrhum Aboubacar Sawadogo, Alexis Yobi Compaoré, Tegwendé Rebeca Ouédraogo, Nabonswindé Lamoussa Marie Mzibri, Mohammed El Attaleb, Mohammed Traoré, Si Simon Simpore, Jacques Bakri, Youssef |
author_facet | Zoure, Abdou Azaque Slaoui, Meriem Bambara, Hierrhum Aboubacar Sawadogo, Alexis Yobi Compaoré, Tegwendé Rebeca Ouédraogo, Nabonswindé Lamoussa Marie Mzibri, Mohammed El Attaleb, Mohammed Traoré, Si Simon Simpore, Jacques Bakri, Youssef |
author_sort | Zoure, Abdou Azaque |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6057717 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | PAGEPress Publications, Pavia, Italy |
record_format | MEDLINE/PubMed |
spelling | pubmed-60577172018-08-03 BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso Zoure, Abdou Azaque Slaoui, Meriem Bambara, Hierrhum Aboubacar Sawadogo, Alexis Yobi Compaoré, Tegwendé Rebeca Ouédraogo, Nabonswindé Lamoussa Marie Mzibri, Mohammed El Attaleb, Mohammed Traoré, Si Simon Simpore, Jacques Bakri, Youssef J Public Health Afr Article 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. PAGEPress Publications, Pavia, Italy 2018-07-06 /pmc/articles/PMC6057717/ /pubmed/30079159 http://dx.doi.org/10.4081/jphia.2018.663 Text en ©Copyright A. Azaque Zoure et al., 2018 http://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution NonCommercial 4.0 License (CC BY-NC 4.0). |
spellingShingle | Article Zoure, Abdou Azaque Slaoui, Meriem Bambara, Hierrhum Aboubacar Sawadogo, Alexis Yobi Compaoré, Tegwendé Rebeca Ouédraogo, Nabonswindé Lamoussa Marie Mzibri, Mohammed El Attaleb, Mohammed Traoré, Si Simon Simpore, Jacques Bakri, Youssef BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title | BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title_full | BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title_fullStr | BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title_full_unstemmed | BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title_short | BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso |
title_sort | brca1 c.68_69delag (exon2), c.181t>g (exon5), c.798_799deltt and 943ins10 (exon11) mutations in burkina faso |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057717/ https://www.ncbi.nlm.nih.gov/pubmed/30079159 http://dx.doi.org/10.4081/jphia.2018.663 |
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