Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/58136
Registo completo
Campo DC | Valor | Idioma |
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dc.contributor.author | Felicio, Paula Silva | por |
dc.contributor.author | Alemar, Barbara | por |
dc.contributor.author | Coelho, Aline Silva | por |
dc.contributor.author | Berardinelli, Gustavo Noriz | por |
dc.contributor.author | Melendez, Matias Eliseo | por |
dc.contributor.author | Lengert, André Van Helvoort | por |
dc.contributor.author | Miche Lli, Rodrigo Depieri | por |
dc.contributor.author | Reis, R. M. | por |
dc.contributor.author | Fernandes, Gabriela Carvalho | por |
dc.contributor.author | Ewald, Ingrid Petroni | por |
dc.contributor.author | Bittar, Camila Matzenbacher | por |
dc.contributor.author | Netto, Cristina Brinckmann Oliveira | por |
dc.contributor.author | Artigalas, Osvaldo | por |
dc.contributor.author | Peixoto, Ana | por |
dc.contributor.author | Pinheiro, Manuela | por |
dc.contributor.author | Teixeira, Manuel R. | por |
dc.contributor.author | Vargas, Fernando Regla | por |
dc.contributor.author | Dos Santos, Anna Cláudia Evangelista | por |
dc.contributor.author | Moreira, Miguel Angelo Martins | por |
dc.contributor.author | Ashton-Prolla, Patricia | por |
dc.contributor.author | Palmero, Edenir Inêz | por |
dc.date.accessioned | 2019-01-14T11:28:08Z | - |
dc.date.issued | 2018-12 | - |
dc.identifier.citation | Felicio, P. S., Alemar, B., Coelho, A. S., et. al. (2018). Screening and characterization of BRCA2 c. 156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast. Cancer genetics, 228, 93-97 | por |
dc.identifier.issn | 2210-7762 | - |
dc.identifier.uri | https://hdl.handle.net/1822/58136 | - |
dc.description | Accepted manuscript | por |
dc.description.abstract | Portuguese immigration to Brazil occurred in several waves and greatly contributed to the genetic composition of current Brazilian population. In this study, we evaluated the frequency of a Portuguese founder Alu insertion in BRCA2 exon 3 (c.156_157insAlu) among individuals fulfilling Hereditary Breast and Ovarian Cancer (HBOC) syndrome criteria in 1,380 unrelated families originated from three distinct Brazilian States. We identified the c.156_157insAlu BRCA2 mutation in nine (9/1,380; 0.65%) probands analised. In carrier probands, European ancestry had the highest proportion (80%), followed by the African (10%) and Amerindian and in most families with the rearrangement, haplotype analyses were compatible with the Portuguese ancestral haplotype. In conclusion, the present study reports a low albeit relevant frequency of the Portuguese BRCA2 founder mutation c.156_157insAlu in Brazilian patients at-risk for HBOC Brazilian population. | por |
dc.description.sponsorship | CNPq (408313/2016-1), FAPERGS (PRONEX: 16/2551-0000486-2), Hospital de Clínicas de Porto Alegre (FIPE-HCPA), FINEP-CT-INFRA (02/2010) and FAPESP (2013/24633-2). RMR, EIP and PA-P are recipients of National Council of Technological and Scientific Development (CNPq) scholarships | por |
dc.language.iso | eng | por |
dc.publisher | Elsevier 1 | por |
dc.rights | closedAccess | por |
dc.subject | BRCA2 | por |
dc.subject | HBOC | por |
dc.subject | Genetic screening | por |
dc.subject | Alu elements | por |
dc.title | Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast | por |
dc.type | article | por |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S2210776218300590 | por |
oaire.citationStartPage | 93 | por |
oaire.citationEndPage | 97 | por |
oaire.citationVolume | 228-229 | por |
dc.identifier.doi | 10.1016/j.cancergen.2018.09.001 | por |
dc.identifier.pmid | 30553478 | por |
dc.subject.fos | Ciências Médicas::Medicina Básica | por |
dc.description.publicationversion | info:eu-repo/semantics/publishedVersion | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Cancer Genetics | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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felicio2018.pdf Acesso restrito! | 655,33 kB | Adobe PDF | Ver/Abrir |