Article
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.
The lancet. Gastroenterology & hepatology - 1 Jul 2018
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
Abstract excerpt
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 pathogenic variant, making it difficult to make informed decisions about surveillance and risk-reducing surgery. We...
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