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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...

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Autores principales: Salmi, Fatiha, Maachi, Fatima, Tazzite, Amal, Aboutaib, Rachid, Fekkak, Jamal, Azeddoug, Houssine, Jouhadi, Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
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.
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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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