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A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome

Pathogenic germline mutations occurring in the BRCA1 (MIM:113705) and BRCA2 (MIM: 600185), which always result in truncated protein or nonsense-mediated mRNA decay, have been identified to increase the risk of hereditary breast, ovarian, pancreatic, prostate, and melanoma cancers. Recent studies sho...

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Detalles Bibliográficos
Autores principales: Wu, Yanmei, Pan, Xiaodong, Dou, Juan, Zhang, Quan, Li, Yuantong, Sheng, Yuan, Liu, Xishui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255550/
https://www.ncbi.nlm.nih.gov/pubmed/34276234
http://dx.doi.org/10.1177/11795549211028569