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Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients
PURPOSE: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. METHODS: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as n...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387004/ https://www.ncbi.nlm.nih.gov/pubmed/28205045 http://dx.doi.org/10.1007/s10549-017-4142-7 |