59º Congresso Brasileiro de Genética
Resumos do 59o Congresso Brasileiro de Genética • 16 a 19 de setembro de 2013
Hotel Monte Real Resort • Águas de Lindóia • SP • Brasil
www.sbg.org.br - ISBN 978-85-89109-06-2
138
ASHKENAZI FOUNDER MUTATIONS OF
BRCA1 IN HBOC PATIENTS FROM NORTHEAST
OF BRAZIL
Felix, GES1,2; Machado-Lopes, TMB1; Bomfim,TF1; Romeo, MAS1; Toralles, MBP1; Meyer, R1; Nascimento, ILO1,3and
Abe-Sandes, K1,4
Laboratório de Imunologia e Biologia Molecular, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Brazil;
Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz-BA; 3Núcleo de Oncologia da Bahia, Brazil; 4Universidade
do Estado da Bahia, Brazil
1
2
[email protected]
Keywords: breast and ovarian cancer, hereditary, BRCA1, Brazilians, Ashkenazi
The BRCA1 and BRCA2 are the mainly tumor suppressor genes associated to the Hereditary Breast and Ovarian
Cancer syndrome (HBOC). It is observed that some mutations are restricted to certain population groups due to, i.e.,
founder effects. In BRCA1 two mutations are intrinsic related to Ashkenazi Jewish population, a very restricted group.
Here, it was verified the frequency of two mutations of BRCA1, c.185delAG and c.5382insC, that are associated
with the Ashkenazi population in admixed individuals at high risk for HBOC from Bahia, Brazil. It was analyzed 98
patients at risk for HBOC from Bahia, Brazil. The genomic DNA was extract from peripheral blood. These patients
were tested for two BRCA1 mutations, c.185delAG and c.5382insC, by Allelic Specific-PCR. Most of the subjects
had only breast cancer (88.8%), followed by ovarian (6.1%) and both breast and ovarian cancer (5.1%). Among
the breast cancer cases the most common histological type was the ductal (72.4%), while among the ovarian cancer
cases were the serous (45.4%). The mean age at diagnostic was 42 yrs (±10.54). Any of the patients presented the
c.185delAG or c.5382insC mutations. Although the Brazilian population is highly heterogeneous and had some
ancestry contribution of the Jewish population in its formation, it seems that in the patients from the Northeast of
Brazil the contribution is not significant due to the pattern de admixture. However, others studies as Dillenburg et
al. (2012) in South of Brazil, found other frequency for the c.185delAG (0.78%), though for the c.5382insC the
frequency was the same to this study (0.0%).