BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

dc.creatorEwald, Ingrid Petroni
dc.creatorCossio, Silvia Liliana
dc.creatorPalmero, Edenir Inez
dc.creatorPinheiro, Manuela
dc.creatorNascimento, Ivana Lucia de Oliveira
dc.creatorMachado, Taisa Manuela Bonfim
dc.creatorSandes, Kiyoko Abe
dc.creatorToralles, Betânia
dc.creatorGaricochea, Bernardo
dc.creatorIzetti, Patricia
dc.creatorPereira, Maria Luiza Saraiva
dc.creatorBock, Hugo
dc.creatorVargas, Fernando Regla
dc.creatorMoreira, Miguel Ângelo Martins
dc.creatorPeixoto, Ana
dc.creatorTeixeira, Manuel R.
dc.creatorProlla, Patricia Ashton
dc.date2016-12-06T11:06:50Z
dc.date2016-12-06T11:06:50Z
dc.date2016
dc.date.accessioned2023-09-26T22:12:48Z
dc.date.available2023-09-26T22:12:48Z
dc.identifierEWALD, Ingrid Petroni; et al. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. Genetics and Molecular Biology, v.39, n.2, p.223-231, 2016.
dc.identifier1415-4757
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/16431
dc.identifier10.1590/1678-4685-GMB-2014-0350
dc.identifier1678-4685
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8876327
dc.descriptionApproximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.
dc.formatapplication/pdf
dc.languageeng
dc.publisherSociedade Brasileira de Genética
dc.rightsopen access
dc.subjectCâncer de mama
dc.subjectRearranjos de genes
dc.subjectCâncer hereditário de mama e ovário
dc.subjectgenes BRCA
dc.subjectBreast cancer
dc.subjectHereditary Breast and Ovarian Cancer syndrome
dc.subjectgene rearrangements
dc.subjectBRCA gene
dc.titleBRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
dc.typeArticle


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