Cargando…
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
BACKGROUND: Germline pathogenic variants in the E-cadherin gene (CDH1) are strongly associated with the development of hereditary diffuse gastric cancer. There is a paucity of data to guide risk assessment and management of families with hereditary diffuse gastric cancer that do not carry a CDH1 pat...
Autores principales: | Fewings, Eleanor, Larionov, Alexey, Redman, James, Goldgraben, Mae A, Scarth, James, Richardson, Susan, Brewer, Carole, Davidson, Rosemarie, Ellis, Ian, Evans, D Gareth, Halliday, Dorothy, Izatt, Louise, Marks, Peter, McConnell, Vivienne, Verbist, Louis, Mayes, Rebecca, Clark, Graeme R, Hadfield, James, Chin, Suet-Feung, Teixeira, Manuel R, Giger, Olivier T, Hardwick, Richard, di Pietro, Massimiliano, O'Donovan, Maria, Pharoah, Paul, Caldas, Carlos, Fitzgerald, Rebecca C, Tischkowitz, Marc |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier B.V
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992580/ https://www.ncbi.nlm.nih.gov/pubmed/29706558 http://dx.doi.org/10.1016/S2468-1253(18)30079-7 |
Ejemplares similares
-
The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women
por: Larionov, Alexey, et al.
Publicado: (2023) -
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status
por: Mi, Emma Z., et al.
Publicado: (2018) -
Incorporating Truncating Variants in PALB2, CHEK2 and ATM into the BOADICEA Breast Cancer Risk Model
por: Lee, Andrew J., et al.
Publicado: (2016) -
Investigation on the Role of PALB2 Gene in CDH1-Negative Patients With Hereditary Diffuse Gastric Cancer
por: Carreño, Marta, et al.
Publicado: (2020) -
Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses
por: Ng, Pei Sze, et al.
Publicado: (2021)