Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

dc.creatorGomes, Magda C. B.
dc.creatorCosta, Maurício M.
dc.creatorBorojevic, Radovan
dc.creatorMonteiro, Alvaro N. A.
dc.creatorVieira, Roberto
dc.creatorKoifman, Sergio
dc.creatorKoifman, Rosalina Jorge
dc.creatorLi, Song
dc.creatorRobert Royer
dc.creatorShiyu Zhang
dc.creatorSteven A. Narod
dc.date2010-08-23T16:00:32Z
dc.date2010-08-23T16:00:32Z
dc.date2007
dc.date.accessioned2023-09-26T21:15:38Z
dc.date.available2023-09-26T21:15:38Z
dc.identifierGOMES, Magda C. B. et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat, Dordrecth, v. 103, n. 3, p. 349-353, jul. 2007.
dc.identifier1573-7217
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/414
dc.identifier10.1590/S0100-879X2009000500009
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8871663
dc.descriptionThe contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil,we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3 percent of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56 percent of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.
dc.formatapplication/pdf
dc.languagepor
dc.rightsopen access
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectBreast Cancer
dc.subjectHereditary
dc.subjectNeoplasias da Mama - genética
dc.subjectGenes BRCA1
dc.subjectGenes BRCA2
dc.subjectTestes Genéticos
dc.subjectMutação
dc.titlePrevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
dc.typeArticle


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