Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
| Autor: | Begoña Mañé, Gemma Llort, Miguel Carballo, Emma Borràs, Angels Arcusa, Carmen Yagüe, Imma Hernan, María José Gamundi, M. de Sousa Dias |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Cancer Research Genes BRCA2 Genes BRCA1 Breast Neoplasms medicine.disease_cause White People DNA sequencing Frameshift mutation Breast cancer Humans Medicine Frameshift Mutation Gene Germ-Line Mutation Aged Genetics Mutation business.industry Molecular genetic testing Brca1 protein High-Throughput Nucleotide Sequencing General Medicine Middle Aged BRCA2 Protein medicine.disease Oncology Spain Hereditary Breast and Ovarian Cancer Syndrome Female business |
| Zdroj: | Clinical and Translational Oncology. 17:576-580 |
| ISSN: | 1699-3055 1699-048X |
| DOI: | 10.1007/s12094-014-1271-x |
| Popis: | To analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology.A population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed for germline mutations in BRCA1 and BRCA2 genes. The methodology relies on a 5 multiplex PCR assay coupled to NGS.Ten pathogenic mutations (four in BRCA1 and six in BRCA2 gene) were identified in a Spanish population. The deletion c.1792delA, in exon 10, and the duplication c.5869dupA, in exon 11 of BRCA2 gene were not previously reported and should be considered as pathogenic due to its frameshift nature.Two novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS. |
| Databáze: | OpenAIRE |
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