Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history

Düfloth, Rozany Mucha; Carvalho, Sílvia; Heinrich, J; Shinzato, Júlia Yoriko; Santos, César Cabello dos; Zeferino, Luíz Carlos; Schmitt, Fernando

doi:10.1590/s1516-31802005000400007

Cited by 46 publications

(22 citation statements)

References 20 publications

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“…In Brazil, 6 studies that collectively screened 1151 individuals with hereditary BC reported 34 different BRCA mutations (24 in BRCA1 and 10 in BRCA2) [30][31][32][33][34][35], including 7 recurrent mutations (5 in BRCA1 and 2 in BRCA2) (Additional file 1: Table S1). In cohort B, a study by Carraro et al [36] (n = 54) detected another 5 mutations (2 in BRCA1 and 3 in BRCA2), including the recurrent mutation c.5266dupC (3.7%), which was also a recurrent mutation in hereditary BC (Additional file 1: Table S1).…”

Section: The Scope Of Brca1 and Brca2 Mutations In Central And South mentioning

confidence: 99%

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

et al. 2017

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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.

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Section: The Scope Of Brca1 and Brca2 Mutations In Central And South mentioning

confidence: 99%

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

et al. 2017

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“…5'-GGAATCCAAATTACACAGC-3' using the methods of Dufloth et al [16]. The PCR products were used for direct sequencing from both directions using a Big Dye Terminator Cycle Sequencing Ready Reaction Kit (Perkin Elmer) in a model 377 Automated DNA Sequencer (Applied Biosystems).…”

Section: Blood Samplesmentioning

confidence: 99%

Detection of a novel mutation in exon 20 of the BRCA1 gene

Chakraborty

Katarkar

Chaudhuri

et al. 2013

Cellular and Molecular Biology Letters

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Abstract:Hereditary breast cancer constitutes 5-10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with structural and functional effects have been documented within the BRCT domain. Interpreting the results of mutation screening of tumor-suppressor genes that can have high-risk susceptibility mutations is increasingly important in clinical practice. This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. In silico analysis suggests that this mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.

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“…In another study carried out in Brazil, Dufloth et al (18) reported the prevalence of BRCA1 and BRCA2 mutations in 31 patients with breast cancer and a positive family history in the State of São Paulo. Four mutations were identified (12.9%), 1 in the BRCA1 gene and 3 in the BRCA2 gene.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

Esteves

Thuler

Amendola

et al. 2009

Braz J Med Biol Res

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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 testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.

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Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history

Cited by 46 publications

References 20 publications

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

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

Detection of a novel mutation in exon 20 of the BRCA1 gene

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

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