The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer

In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expre...

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Detalles Bibliográficos
Autores principales: Li, Sanrong, Ma, Jing, Hu, Caiying, Zhang, Xing, Xiao, Deyong, Hao, Lili, Xia, Wenjun, Yang, Jichun, Hu, Ling, Liu, Xiaowei, Dong, Minghui, Ma, Duan, Liu, Rensheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Breast Cancer Society 2018
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158161/
https://www.ncbi.nlm.nih.gov/pubmed/30275862
http://dx.doi.org/10.4048/jbc.2018.21.e33

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