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Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresp...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250276/ https://www.ncbi.nlm.nih.gov/pubmed/32453342 http://dx.doi.org/10.1590//1678-4685-GMB-2019-0072 |
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author | Gomes, Renan Soares, Barbara Luisa Felicio, Paula Silva Michelli, Rodrigo Netto, Cristina B. O. Alemar, Barbara Ashton-Prolla, Patrícia Palmero, Edenir Inêz Moreira, Miguel Ângelo Martins |
author_facet | Gomes, Renan Soares, Barbara Luisa Felicio, Paula Silva Michelli, Rodrigo Netto, Cristina B. O. Alemar, Barbara Ashton-Prolla, Patrícia Palmero, Edenir Inêz Moreira, Miguel Ângelo Martins |
author_sort | Gomes, Renan |
collection | PubMed |
description | Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population. |
format | Online Article Text |
id | pubmed-7250276 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-72502762020-06-05 Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer Gomes, Renan Soares, Barbara Luisa Felicio, Paula Silva Michelli, Rodrigo Netto, Cristina B. O. Alemar, Barbara Ashton-Prolla, Patrícia Palmero, Edenir Inêz Moreira, Miguel Ângelo Martins Genet Mol Biol Human and Medical Genetics Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population. Sociedade Brasileira de Genética 2020-05-20 /pmc/articles/PMC7250276/ /pubmed/32453342 http://dx.doi.org/10.1590//1678-4685-GMB-2019-0072 Text en https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited. |
spellingShingle | Human and Medical Genetics Gomes, Renan Soares, Barbara Luisa Felicio, Paula Silva Michelli, Rodrigo Netto, Cristina B. O. Alemar, Barbara Ashton-Prolla, Patrícia Palmero, Edenir Inêz Moreira, Miguel Ângelo Martins Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer |
title | Haplotypic characterization of BRCA1 c.5266dupC, the
prevailing mutation in Brazilian hereditary breast/ovarian
cancer |
title_full | Haplotypic characterization of BRCA1 c.5266dupC, the
prevailing mutation in Brazilian hereditary breast/ovarian
cancer |
title_fullStr | Haplotypic characterization of BRCA1 c.5266dupC, the
prevailing mutation in Brazilian hereditary breast/ovarian
cancer |
title_full_unstemmed | Haplotypic characterization of BRCA1 c.5266dupC, the
prevailing mutation in Brazilian hereditary breast/ovarian
cancer |
title_short | Haplotypic characterization of BRCA1 c.5266dupC, the
prevailing mutation in Brazilian hereditary breast/ovarian
cancer |
title_sort | haplotypic characterization of brca1 c.5266dupc, the
prevailing mutation in brazilian hereditary breast/ovarian
cancer |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250276/ https://www.ncbi.nlm.nih.gov/pubmed/32453342 http://dx.doi.org/10.1590//1678-4685-GMB-2019-0072 |
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