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Diez O, Pelegrí A, Gadea N, et al. Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncol Lett. 2011;2(6):1287-1289doi: 10.3892/ol.2011.390.
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A., Bosch, N., Balmaña, J., & Graña, B. (2011). Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncology letters, 2(6), 1287-1289. https://doi.org/10.3892/ol.2011.390
Diez, Orland, et al. "Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer." Oncology letters vol. 2,6 (2011): 1287-1289. doi: https://doi.org/10.3892/ol.2011.390
Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J, Graña B. Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncol Lett. 2011 Nov;2(6):1287-1289. doi: 10.3892/ol.2011.390. Epub 2011 Aug 19. PMID: 22848303; PMCID: PMC3406549.
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Oncol Lett. 2011 Nov;2(6):1287-1289. doi: 10.3892/ol.2011.390. Epub 2011 Aug 19.

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

Oncology letters

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

Affiliations

  1. Oncogenetics Laboratory, University Hospital Vall d'Hebron, Barcelona.

PMID: 22848303 PMCID: PMC3406549 DOI: 10.3892/ol.2011.390

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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