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dc.contributor.authorEwald, Ingrid Petronipt_BR
dc.contributor.authorRibeiro, Patrícia Lisbôa Izettipt_BR
dc.contributor.authorVargas, Fernando Reglapt_BR
dc.contributor.authorMoreira, Miguel Angelo Martinspt_BR
dc.contributor.authorMoreira, Aline S.pt_BR
dc.contributor.authorMoreira Filho, Carlos Albertopt_BR
dc.contributor.authorCunha, Danielle Renzonipt_BR
dc.contributor.authorHamaguchi, Sarapt_BR
dc.contributor.authorCamey, Suzi Alvespt_BR
dc.contributor.authorSchmidt, Aishameriane Venespt_BR
dc.contributor.authorCaleffi, Mairapt_BR
dc.contributor.authorSantos, Patrícia Koehler dospt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorProlla, Patrícia Ashtonpt_BR
dc.date.accessioned2015-02-11T02:18:02Zpt_BR
dc.date.issued2011pt_BR
dc.identifier.issn1731-2302pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/109954pt_BR
dc.description.abstractAbout 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofHereditary cancer in clinical practice. London. Vol. 9 (20 dec. 2011), [8 f.].pt_BR
dc.rightsOpen Accessen
dc.subjectHereditary breast canceren
dc.subjectEstatistica aplicada : Medicinapt_BR
dc.subjectHereditary breast and ovarian cancer Syndromeen
dc.subjectFounder mutationsen
dc.subjectBRCA1 geneen
dc.subjectBRCA2 geneen
dc.titlePrevalence of the BRCA1 founder mutation c.5266dup in brazilian individuals at-risk for the hereditary breast and ovarian cancer syndromept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000820915pt_BR
dc.type.originEstrangeiropt_BR


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