2009
DOI: 10.1590/s0100-879x2009000500009 View full text |Buy / Rent full text
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Abstract: 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… Show more

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“…The HISPANEL is organized into 5 multiplex PCR reactions and detects 59 BRCA1 and 55 BRCA2 mutations, including 15 mutations already described in Brazilian patients [21][22][23][24][25][26]. Results of the HISPANEL analyses were compared to data from an independent cohort of 193 unrelated probands from the same Page 5 of 17 region who met the same inclusion criteria and had full BRCA testing by either Sanger or next generation sequencing at commercial diagnostic laboratories.…”
Section: Methodsmentioning
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“…The HISPANEL is organized into 5 multiplex PCR reactions and detects 59 BRCA1 and 55 BRCA2 mutations, including 15 mutations already described in Brazilian patients [21][22][23][24][25][26]. Results of the HISPANEL analyses were compared to data from an independent cohort of 193 unrelated probands from the same Page 5 of 17 region who met the same inclusion criteria and had full BRCA testing by either Sanger or next generation sequencing at commercial diagnostic laboratories.…”
Section: Methodsmentioning
“…Several recent studies have evaluated BRCA mutation in Latin American countries, and some of them have documented prevalence studies in high-risk population and in unselected invasive BC cases in Mexico (six total studies, 6.3-23.0% in high risk, 4.3% in unselected) [34][35][36], Brazil (eight studies, 3.4-22.5%, 2.3%) [37][38], Argentina (two studies, 16.2-58.3%, unknown) [33,39], Colombia (five studies, 14.3-24.5%, 1.2-4.5%) [40][41], Chile (two studies, 7.1-20.4%, unknown) [42], Costa Rica (one study, 4.5%, unknown) [43], Cuba (one study, 2.6%, unknown) [44], Peru (one study, 4.9%, unknown) [45], Uruguay (one study, 17%, unknown) [46], Venezuela (one study,17.2%, unknown) [47], Trinidad and Tobago (one study, unknown, 10.4%) [48] and The Bahamas (one study, 27.1%, unknown) [49]. Most Latin American studies identified a higher rate of BRCA1 than BRCA2 mutations [37], however studies from Costa Rica [43], Cuba [50], Puerto Rico [51] and Uruguay [46] reported the opposite finding.…”
Section: Clinicomolecular Features Of Hostmentioning
“…Two of these mutation (BRCA1 c.3331 3334delCAAG and BRCA1 c.5123C>A; along with BRCA2 c.5616 5620delAGTAA) was found in a screening of 244 unselected Colombian (Medellin) women with BC [56]. Three studies have evaluated more than 1000 Brazilians and describe recurrent BRCA mutations [37][38]57]. Esteves et al found BRCA1 ins6Kb (seven cases), c.5266dupC (four cases), 3261delGinsCC (three cases) in a total of 21 BRCA mutation in 612 medium and high risk for breast or ovarian cancer women [38].…”
Section: Clinicomolecular Features Of Hostmentioning
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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