Full metadata record
DC Field | Value | Language |
---|---|---|
dc.creator | Salgado, J. (Josefa) | - |
dc.creator | Santisteban, M. (Marta) | - |
dc.creator | Gutierrez, C. (Cristina) | - |
dc.creator | Gil, C. (Carmen) | - |
dc.creator | Robles, M. (Maitane) | - |
dc.creator | Viedma, A. (Adriana) | - |
dc.creator | Patiño-García, A. (Ana) | - |
dc.date.accessioned | 2014-07-04T12:29:54Z | - |
dc.date.available | 2014-07-04T12:29:54Z | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | Salgado J, Santisteban M, Gutierrez C, Gil C, Robles M, Viedma A, et al. A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncol Lett. 2013 September;6(3):725–727. | es_ES |
dc.identifier.issn | 1792-1074 | - |
dc.identifier.uri | https://hdl.handle.net/10171/36147 | - |
dc.description.abstract | Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Spandidos Publications | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | BRCA1 | es_ES |
dc.subject | Breast cancer | es_ES |
dc.subject | Novel mutation | es_ES |
dc.subject | Ovarian cancer | es_ES |
dc.title | A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.identifier.doi | http://dx.doi.org/10.3892/ol.2013.1440 | es_ES |
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