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	Provedor de dados Genet. Mol. Biol. (4) BJMBR (1) Autor Ashton-Prolla,Patricia (3) Alemar,Barbara (1) Amêndola,L.C. (1) Bandeira,Isabel Cristina (1) Bittelbrunn,Ana Cristina (1) Cossio,Silvia Liliana (1) Dias,Eleonora Souza (1) Dillenburg,Crisle Vignol (1) Esteves,V.F. (1) Ewald,Ingrid Petroni (1) Frankel,P.P. (1) Giugliani,Roberto (1) Koifman,R.J. (1) Koifman,S. (1) Leistner-Segal,Sandra (1) Macedo,Gabriel S. (1) Palmero,Edenir Inêz (1) Ribeiro,Patricia Lisboa Izetti (1) Rossato,Luciana Grazziotin (1) Thuler,L.C.S. (1) Mais... Palavra-chave BRCA1 (5) BRCA2 (5) Breast cancer (3) Cancer predisposition (2) Ashkenazi Jews (1) Brazil (1) Breast cancer genes (1) Genomic rearrangements (1) Homologous recombination (1) MLPA (1) Mutation (1) Mutations (1) PARP inhibitors (1) TP53 (1) Mais... Tipo do documento Info:eu-repo/semantics/article (5) Ano 2019 (1) 2014 (1) 2012 (1) 2009 (2) País Brazil (5) Idioma Inglês (5)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 5 Primeira ... 1 ... Última Genomic rearrangements in BRCA1 and BRCA2: a literature review Genet. Mol. Biol. Ewald,Ingrid Petroni; Ribeiro,Patricia Lisboa Izetti; Palmero,Edenir Inêz; Cossio,Silvia Liliana; Giugliani,Roberto; Ashton-Prolla,Patricia. Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also... Tipo: Info:eu-repo/semantics/article Palavras-chave: BRCA1; BRCA2; Breast cancer; Genomic rearrangements; MLPA. Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300003 Prevalence and impact of founder mutations in hereditary breast cancer in Latin America Genet. Mol. Biol. Ashton-Prolla,Patricia; Vargas,Fernando Regla. Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the influx of several distinct populations of immigrants. In this article, we present a... Tipo: Info:eu-repo/semantics/article Palavras-chave: Breast cancer genes; BRCA1; BRCA2; TP53; Cancer predisposition. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009 Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era Genet. Mol. Biol. Macedo,Gabriel S.; Alemar,Barbara; Ashton-Prolla,Patricia. Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer. The identification of BRCA1, BRCA2 and PALB2 as proteins involved in DNA double-strand break repair by homologous recombination and of the impact of complete loss of BRCA1 or BRCA2 within tumors have allowed the development of novel therapeutic approaches for patients with germline or somatic mutations in said genes. Despite the advances, especially in the clinical use of PARP... Tipo: Info:eu-repo/semantics/article Palavras-chave: BRCA1; BRCA2; Homologous recombination; Cancer predisposition; PARP inhibitors. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200215 Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil Genet. Mol. Biol. Dillenburg,Crisle Vignol; Bandeira,Isabel Cristina; Tubino,Taiana Valente; Rossato,Luciana Grazziotin; Dias,Eleonora Souza; Bittelbrunn,Ana Cristina; Leistner-Segal,Sandra. Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies... Tipo: Info:eu-repo/semantics/article Palavras-chave: Ashkenazi Jews; Breast cancer; BRCA1; BRCA2; Mutation. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400009 Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil BJMBR Esteves,V.F.; Thuler,L.C.S.; Amêndola,L.C.; Koifman,R.J.; Koifman,S.; Frankel,P.P.; Vieira,R.J.S.. Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic... Tipo: Info:eu-repo/semantics/article Palavras-chave: Breast cancer; BRCA1; BRCA2; Mutations; Brazil. Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500009 Registros recuperados: 5 Primeira ... 1 ... Última

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