Journal
ONCOLOGY LETTERS
Volume 2, Issue 6, Pages 1287-1289Publisher
SPANDIDOS PUBL LTD
DOI: 10.3892/ol.2011.390
Keywords
African; BRCA1; familial cancer; genetic predisposition; hereditary breast cancer; mutation
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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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