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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Breast Cancer
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Korean Breast Cancer Society 2018
Soggetti:
Brief Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6158161/
https://ncbi.nlm.nih.gov/pubmed/30275862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4048/jbc.2018.21.e33
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi