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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...

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Detalles Bibliográficos
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