Cargando…
Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report
Inherited loss-of-function mutations in the tumor suppressor BRCA2 gene are associated with a high risk of ovarian cancer in the Chinese population. The current case report discusses a novel heterozygous insertion in BRCA2 gene, c.3195_3196insA, in a 54-year-old Chinese female with hereditary ovaria...
Autores principales: | Cui, Yanzhi, Wang, Yanyan, Zhang, Ningzhi, He, Jun, Huang, Hui, Liu, Fengling, Wei, Suju, Dong, Qian, Wu, Jing, Lin, Keke, Chen, Weixi, Xiang, Jiale, Jin, Hui, Peng, Zhiyu, Zhao, Qiang, Li, Wei, Jiang, Da, Banerjee, Santasree |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396105/ https://www.ncbi.nlm.nih.gov/pubmed/30867769 http://dx.doi.org/10.3892/ol.2019.9950 |
Ejemplares similares
-
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level
por: Zhang, Yanni, et al.
Publicado: (2018) -
Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
por: Wineland, Dylane, et al.
Publicado: (2023) -
Switch of FANCL, a key FA-BRCA component, between tumor suppressor and promoter by alternative splicing
por: Yuan, Chengfu, et al.
Publicado: (2012) -
The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population
por: Luo, Yu, et al.
Publicado: (2022) -
DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas
por: Kamieniak, M M, et al.
Publicado: (2013)