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| Lara,Karlena; Consigliere,Nigmet; Pérez,Jorge; Porco,Antonietta. |
| A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations were not found in any of the samples. We identified 6 (10.3%) and 4 (6.9%) patients carrying germline mutations in BRCA1 and BRCA2, respectively. Four pathogenic mutations were found in BRCA1, one is a novel mutation (c.951_952insA), while the other three had been previously reported (c.1129_1135insA, c.4603G>T and IVS20+1G>A). We also found 4 pathogenic mutations in BRCA2, two novel mutations (c.2732_2733insA and c.3870_3873delG) and two that have been... |
| Tipo: Journal article |
Palavras-chave: BRCA genes; Breast cancer; Screening mutations. |
| Ano: 2012 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602012000200003 |
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