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Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history
Prostate cancer is the most common male cancer in Morocco. Although sporadic forms account for a large proportion of patients, familial forms of prostate cancer are observed in 20% of cases and about 5% are due to hereditary transmission. Indeed, germline mutations in BRCA1/2 genes have been associa...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8270444/ https://www.ncbi.nlm.nih.gov/pubmed/34242281 http://dx.doi.org/10.1371/journal.pone.0254101 |
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author | Salmi, Fatiha Maachi, Fatima Tazzite, Amal Aboutaib, Rachid Fekkak, Jamal Azeddoug, Houssine Jouhadi, Hassan |
author_facet | Salmi, Fatiha Maachi, Fatima Tazzite, Amal Aboutaib, Rachid Fekkak, Jamal Azeddoug, Houssine Jouhadi, Hassan |
author_sort | Salmi, Fatiha |
collection | PubMed |
description | Prostate cancer is the most common male cancer in Morocco. Although sporadic forms account for a large proportion of patients, familial forms of prostate cancer are observed in 20% of cases and about 5% are due to hereditary transmission. Indeed, germline mutations in BRCA1/2 genes have been associated with prostate cancer risk. However, the spectrum of these mutations was not investigated in Moroccan Prostate cancer patients. Thereby, the aim of this study was to characterize and to estimate the prevalence of germline BRCA1/2 mutations and large rearrangements in Moroccan patients with familial prostate cancer. The entire coding regions and intron/exon boundaries of BRCA1 and BRCA2 genes have been analyzed by next generation sequencing (NGS) in a total of 30 familial prostate cancer patients. Three pathogenic mutations were detected in four unrelated patients (13.3%). One BRCA1 mutation (c.1953_1956delGAAA) and two BRCA2 mutations (c.7234_7235insG and BRCA2ΔE12). In addition, sixty-three distinct polymorphisms and unclassified variants have been found. Early identification of germline BRCA1/2 mutations may be relevant for the management of Moroccan prostate cancer patients. |
format | Online Article Text |
id | pubmed-8270444 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-82704442021-07-21 Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history Salmi, Fatiha Maachi, Fatima Tazzite, Amal Aboutaib, Rachid Fekkak, Jamal Azeddoug, Houssine Jouhadi, Hassan PLoS One Research Article Prostate cancer is the most common male cancer in Morocco. Although sporadic forms account for a large proportion of patients, familial forms of prostate cancer are observed in 20% of cases and about 5% are due to hereditary transmission. Indeed, germline mutations in BRCA1/2 genes have been associated with prostate cancer risk. However, the spectrum of these mutations was not investigated in Moroccan Prostate cancer patients. Thereby, the aim of this study was to characterize and to estimate the prevalence of germline BRCA1/2 mutations and large rearrangements in Moroccan patients with familial prostate cancer. The entire coding regions and intron/exon boundaries of BRCA1 and BRCA2 genes have been analyzed by next generation sequencing (NGS) in a total of 30 familial prostate cancer patients. Three pathogenic mutations were detected in four unrelated patients (13.3%). One BRCA1 mutation (c.1953_1956delGAAA) and two BRCA2 mutations (c.7234_7235insG and BRCA2ΔE12). In addition, sixty-three distinct polymorphisms and unclassified variants have been found. Early identification of germline BRCA1/2 mutations may be relevant for the management of Moroccan prostate cancer patients. Public Library of Science 2021-07-09 /pmc/articles/PMC8270444/ /pubmed/34242281 http://dx.doi.org/10.1371/journal.pone.0254101 Text en © 2021 Salmi et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Salmi, Fatiha Maachi, Fatima Tazzite, Amal Aboutaib, Rachid Fekkak, Jamal Azeddoug, Houssine Jouhadi, Hassan Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title | Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title_full | Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title_fullStr | Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title_full_unstemmed | Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title_short | Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history |
title_sort | next-generation sequencing of brca1 and brca2 genes in moroccan prostate cancer patients with positive family history |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8270444/ https://www.ncbi.nlm.nih.gov/pubmed/34242281 http://dx.doi.org/10.1371/journal.pone.0254101 |
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