Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast

•In our cohort, the frequency of the Portuguese BRCA2 founder mutation (c.156_157insAlu) was 0.65%.•The most frequent ancestry proportions of the mutation carriers were European and African.•67% of the families presented a pattern compatible with the Portuguese ancestral haplotype. Portuguese immigr...

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Published in:	Cancer genetics Vol. 228-229; pp. 93 - 97
Main Authors:	Felicio, Paula Silva, Alemar, Barbara, Coelho, Aline Silva, Berardinelli, Gustavo Noriz, Melendez, Matias Eliseo, Lengert, André Van Helvoort, Miche lli, Rodrigo Depieri, Reis, Rui 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
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-12-2018
Subjects:	Alu elements BRCA2 Genetic screening HBOC Alu elements BRCA2 Genetic screening HBOC
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Summary:	•In our cohort, the frequency of the Portuguese BRCA2 founder mutation (c.156_157insAlu) was 0.65%.•The most frequent ancestry proportions of the mutation carriers were European and African.•67% of the families presented a pattern compatible with the Portuguese ancestral haplotype. 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2210-7762 2210-7770
DOI:	10.1016/j.cancergen.2018.09.001