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

Gomes, Renan; Soares, Barbara Luisa; Felicio, Paula Silva; Michelli, Rodrigo; Netto, Cristina B. O.; Alemar, Barbara; Ashton-Prolla, Patrícia; Palmero, Edenir Inêz; Moreira, Miguel Ângelo Martins

doi:10.1590//1678-4685-GMB-2019-0072

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Human and Medical Genetics • Genet. Mol. Biol. 43 (2) • 2020 • https://doi.org/10.1590//1678-4685-GMB-2019-0072 linkcopy

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

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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.

Keywords
Founder mutation; Ashkenazi Jewish; BRCA1; BRCA1 c.5266dupC; hereditary breast cancer

Carrier	Relationship	Gender	Cancer type	Tumor location	Age at diagnostic
RJ-01	Proband	F	Ovarian	Bilateral	47/47
RJ-02	Proband	F	Breast	Bilateral	36/41
RJ-02C	3^rd degree relative	F	Breast	Bilateral	47
RJ-02F	3^rd degree relative	F	Breast	Unilateral	49
RJ-02G	4^th degree relative	F	Healthy	-	-
RJ-03	Proband	F	Breast	Bilateral	47/47
RJ-04	Proband	F	Breast	Bilateral	33/38
RJ-05	Proband	F	Breast	Unilateral	33
RJ-05A	1^st degree relative	F	Healthy	-	-
SP-01	Proband	F	Breast	Bilateral	36
SP-01A	2^nd degree relative	F	Breast	Bilateral	46
SP-01B	3^rd degree relative	F	Healthy	-	-
SP-01C	5^th degree relative	F	Healthy	-	35
SP-02	Proband	F	Breast	Unilateral	63
SP02-A	1^st degree relative	F	Healthy	-	-
SP-03	Proband	F	Breast	Bilateral	37
SP-03A	1^st degree relative	F	Breast	Unilateral	41
SP-03B	1^st degree relative	M	Healthy	-	-
SP-04	Proband	F	Breast	Bilateral	31
SP-04A	1^st degree relative	F	Healthy	-	-
SP-05	Proband	F	Ovarian	-	49
SP-05A	1^st degree relative	F	Healthy	-	-
SP-05B	1^st degree relative	F	Breast	Unilateral	47
SP-05C	1^st degree relative	F	Healthy	-	-
SP-05D	3^rd degree relative	M	Healthy	-	-
SP-05E	3^rd degree relative	F	Healthy	-	-
RS-01	Proband	F	Breast	Bilateral	36/-
RS-01A	3^rd degree relative	F	Ovarian	Bilateral	52/54
RS-02	Proband	F	Breast	Bilateral	23/44
RS-03	Proband	F	Breast	Bilateral	-
RS-04	Proband	F	Breast	Bilateral	35/45
RS-04A	1^st degree relative	F	Healthy	-	-
RS-05B	3^rd degree relative	F	Breast	Bilateral	49/64

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Sociedade Brasileira de Genética Rua Cap. Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP Brazil, Tel.: (55 16) 3911-4130 / Fax.: (55 16) 3621-3552 - Ribeirão Preto - SP - Brazil
E-mail: editor@gmb.org.br

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