| Autor: |
Diez O; Oncogenetics Laboratory, University Hospital Vall d'Hebron, Barcelona., Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J, Graña B |
| Jazyk: |
angličtina |
| Zdroj: |
Oncology letters [Oncol Lett] 2011 Nov; Vol. 2 (6), pp. 1287-1289. Date of Electronic Publication: 2011 Aug 19. |
| DOI: |
10.3892/ol.2011.390 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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