Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/58136

TitleScreening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast
Author(s)Felicio, Paula Silva
Alemar, Barbara
Coelho, Aline Silva
Berardinelli, Gustavo Noriz
Melendez, Matias Eliseo
Lengert, André Van Helvoort
Miche Lli, Rodrigo Depieri
Reis, R. M.
Fernandes, Gabriela Carvalho
Ewald, Ingrid Petroni
Bittar, Camila Matzenbacher
Netto, Cristina Brinckmann Oliveira
Artigalas, Osvaldo
Peixoto, Ana
Pinheiro, Manuela
Teixeira, Manuel R.
Vargas, Fernando Regla
Dos Santos, Anna Cláudia Evangelista
Moreira, Miguel Angelo Martins
Ashton-Prolla, Patricia
Palmero, Edenir Inêz
KeywordsBRCA2
HBOC
Genetic screening
Alu elements
Issue dateDec-2018
PublisherElsevier
JournalCancer Genetics
CitationFelicio, 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
Abstract(s)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.
TypeArticle
DescriptionAccepted manuscript
URIhttp://hdl.handle.net/1822/58136
DOI10.1016/j.cancergen.2018.09.001
ISSN2210-7762
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S2210776218300590
Peer-Reviewedyes
AccessRestricted access (Author)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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