Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susce...

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Autores principales:	Jara,Lilian, Morales,Sebastian, Mayo,Tomas de, Gonzalez–Hormazabal,Patricio, Carrasco,Valentina, Godoy,Raul
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2017
Materias:	Hereditary and early onset breast cancer Susceptibility genes Pathogenic point mutations Large genomic rearrangements Ethnic composition
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505
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spelling	oai:scielo:S0716-976020170001005052018-01-08Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populationsJara,LilianMorales,SebastianMayo,Tomas deGonzalez–Hormazabal,PatricioCarrasco,ValentinaGodoy,Raul Hereditary and early onset breast cancer Susceptibility genes Pathogenic point mutations Large genomic rearrangements Ethnic composition Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.50 20172017-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505en10.1186/s40659-017-0139-2
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Hereditary and early onset breast cancer Susceptibility genes Pathogenic point mutations Large genomic rearrangements Ethnic composition
spellingShingle	Hereditary and early onset breast cancer Susceptibility genes Pathogenic point mutations Large genomic rearrangements Ethnic composition Jara,Lilian Morales,Sebastian Mayo,Tomas de Gonzalez–Hormazabal,Patricio Carrasco,Valentina Godoy,Raul Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
description	Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
author	Jara,Lilian Morales,Sebastian Mayo,Tomas de Gonzalez–Hormazabal,Patricio Carrasco,Valentina Godoy,Raul
author_facet	Jara,Lilian Morales,Sebastian Mayo,Tomas de Gonzalez–Hormazabal,Patricio Carrasco,Valentina Godoy,Raul
author_sort	Jara,Lilian
title	Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
title_short	Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
title_full	Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
title_fullStr	Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
title_full_unstemmed	Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
title_sort	mutations in brca1, brca2 and other breast and ovarian cancer susceptibility genes in central and south american populations
publisher	Sociedad de Biología de Chile
publishDate	2017
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505
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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

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