Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

被引：0

作者：

Gomes, Renan ^{[1
]}

Soares, Barbara Luisa ^{[1
]}

Felicio, Paula Silva ^{[2
]}

Michelli, Rodrigo ^{[2
]}

Netto, Cristina B. O. ^{[3
]}

Alemar, Barbara ^{[4
,5
]}

Ashton-Prolla, Patricia ^{[4
,5
]}

Palmero, Edenir Inez ^{[2
,6
]}

Martins Moreira, Miguel Angelo ^{[1
]}

机构：

[1] Inst Nacl Canc, Programa Genet, BR-20231050 Rio De Janeiro, RJ, Brazil

[2] Hosp Canc Barretos, Ctr Pesquisa Oncol Mol, Barretos, SP, Brazil

[3] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil

[4] Hosp Clin Porto Alegre, Lab Med Genom, Porto Alegre, RS, Brazil

[5] Univ Fed Rio Grande do Sul UFRGS, Dept Genet, Programa Posgrad Genet & Biol Mol, Porto Alegre, RS, Brazil

[6] Fac Ciencias Saude Barretos Dr Paulo Prata FACISB, Barretos, SP, Brazil

来源：

GENETICS AND MOLECULAR BIOLOGY | 2020年 / 43卷 / 02期

关键词：

Founder mutation; Ashkenazi Jewish; BRCA1; c.5266dupC; hereditary breast cancer; FOUNDER MUTATIONS; BRCA2; MUTATIONS; BREAST; 5382INSC; RISK;

D O I：

10.1590/1678-4685-GMB-2019-0072

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population.

引用

页数：5

共 20 条

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