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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...

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Detalles Bibliográficos
Autores principales: Park, Boyoung, Sohn, Ji Yeon, Yoon, Kyong-Ah, Lee, Keun Seok, Cho, Eun Hae, Lim, Myong Cheol, Yang, Moon Jung, Park, Soo Jin, Lee, Moo Hyun, Lee, See youn, Chang, Yoon Jung, Lee, Dong Ock, Kong, Sun-Young, Lee, Eun Sook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2017
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