Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
Abstract 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 mutatio...
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doaj-4a70f7b6e040486f9134f1896ed6fd552020-11-25T02:51:58ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-468543210.1590//1678-4685-gmb-2019-0072S1415-47572020000400106Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancerRenan GomesBarbara Luisa SoaresPaula Silva FelicioRodrigo MichelliCristina B. O. NettoBarbara AlemarPatrícia Ashton-ProllaEdenir Inêz PalmeroMiguel Ângelo Martins MoreiraAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400106&lng=en&tlng=enfounder mutationashkenazi jewishbrca1brca1 c.5266dupchereditary breast cancer |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Renan Gomes Barbara Luisa Soares Paula Silva Felicio Rodrigo Michelli Cristina B. O. Netto Barbara Alemar Patrícia Ashton-Prolla Edenir Inêz Palmero Miguel Ângelo Martins Moreira |
spellingShingle |
Renan Gomes Barbara Luisa Soares Paula Silva Felicio Rodrigo Michelli Cristina B. O. Netto Barbara Alemar Patrícia Ashton-Prolla Edenir Inêz Palmero Miguel Ângelo Martins Moreira Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer Genetics and Molecular Biology founder mutation ashkenazi jewish brca1 brca1 c.5266dupc hereditary breast cancer |
author_facet |
Renan Gomes Barbara Luisa Soares Paula Silva Felicio Rodrigo Michelli Cristina B. O. Netto Barbara Alemar Patrícia Ashton-Prolla Edenir Inêz Palmero Miguel Ângelo Martins Moreira |
author_sort |
Renan Gomes |
title |
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_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_sort |
haplotypic characterization of brca1 c.5266dupc, the prevailing mutation in brazilian hereditary breast/ovarian cancer |
publisher |
Sociedade Brasileira de Genética |
series |
Genetics and Molecular Biology |
issn |
1415-4757 1678-4685 |
description |
Abstract 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. |
topic |
founder mutation ashkenazi jewish brca1 brca1 c.5266dupc hereditary breast cancer |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400106&lng=en&tlng=en |
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