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

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dc.contributor.authorJara, Lilian
dc.contributor.authorMorales, Sebastian
dc.contributor.authorde Mayo, Tomas
dc.contributor.authorGonzalez, Patricio
dc.contributor.authorCarrasco, Valentina
dc.contributor.authorGodoy, Raul
dc.date.accessioned2018-01-10T13:08:22Z
dc.date.available2018-01-10T13:08:22Z
dc.date.issued2017
dc.description.abstractBreast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understand‑ ing 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-specifc moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribu‑ tion and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as com‑ pared 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 diferent 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.
dc.format.extent18
dc.identifier.citationJara L, Morales S, de Mayo T, Gonzalez-Hormazabal P, Carrasco V, Godoy R. Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biol Res. 2017 Oct 6;50(1):35.
dc.identifier.urihttp://hdl.handle.net/11447/1874
dc.identifier.urihttp://dx.doi.org/10.1186/s40659-017-0139-2
dc.language.isoen_US
dc.publisherBioMed Central
dc.subjectHereditary and early onset breast cancer
dc.subjectSusceptibility genes
dc.subjectPathogenic point mutations
dc.subjectLarge genomic rearrangements
dc.subjectEthnic composition
dc.titleMutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
dc.typeArtículo

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