title: Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.
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.
authors: Oncogenetics Laboratory, University Hospital Vall d'Hebron, Barcelona.
authors: Orland
authors: O
authors: Diez
authors: Amadeu
authors: A
authors: Pelegrí
authors: Neus
authors: N
authors: Gadea
authors: Sara
authors: S
authors: Gutiérrez-Enríquez
authors: Miriam
authors: M
authors: Masas
authors: Anna
authors: A
authors: Tenés
authors: Nina
authors: N
authors: Bosch
authors: Judith
authors: J
authors: Balmaña
authors: Begoña
authors: B
authors: Graña