Open AccessNovel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer
Author(s) -
Orland Díez,
A. Pelegrí,
Neus Gadea,
Sara GutiérrezEnríquez,
Miriam Masas,
Anna Tenés,
N. Bosch,
Judith Balmañà,
Begoña Graña
Publication year - 2011
Publication title -
oncology letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.766
H-Index - 54
eISSN - 1792-1082
pISSN - 1792-1074
DOI - 10.3892/ol.2011.390
Subject(s) - frameshift mutation , triple negative breast cancer , exon , mutation , breast cancer , genetics , oncogene , cancer , biology , cancer research , stop codon , gene , cell cycle
Limited information exists regarding BRCA1 and BRCA2 genetic testing and genetic diversity in BRCA1 and BRCA2 in sub-Saharan African populations. We report a novel mutation that consists of a deletion of 2 bp (c.1949_1950delTA) in the exon 11 of the BRCA1 gene. This is a frameshift mutation that causes the disruption of the translational reading frame resulting in a premature stop codon downstream in the BRCA1 protein. The mutation was present in a Senegalese woman with a triple-negative breast tumor and a family history of breast cancer.