Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

Diez,Orland; Pelegrí,Amadeu; Gadea,Neus; Gutiérrez-Enríquez,Sara; Masas,Miriam; Tenés,Anna; Bosch,Nina; Balmaña,Judith; Graña,Begoña

doi:10.3892/ol.2011.390

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

Authors:
- Orland Diez
- Amadeu Pelegrí
- Neus Gadea
- Sara Gutiérrez-Enríquez
- Miriam Masas
- Anna Tenés
- Nina Bosch
- Judith Balmaña
- Begoña Graña
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Affiliations: Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology, Barcelona, Spain, Medical Oncology Service, Hospital Sant Pau i Santa Tecla, Tarragona, Spain, Medical Oncology Department, University Hospital Vall d'Hebron, Barcelona, Spain, Vall d'Hebron Institute of Oncology, Barcelona, Spain
Published online on: August 19, 2011 https://doi.org/10.3892/ol.2011.390
Pages: 1287-1289

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Abstract

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.

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