Browsing by Author "Garcia-Pelaez, José"

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  • A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
    Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Sommer, Anna K.; Matalonga, Leslie; Starzynska, Teresa; Jakubowska, Anna; Solve-RD-GENTURIS group; van der Post, Rachel S.; Lubinski, Jan; Oliveira, Carla; Hoogerbrugge, Nicoline; de Voer, Richarda M. (Nature Research, 2021)
    Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification ...
  • Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD
    Sommer, Anna K.; Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; Solve-RD-GENTURIS group; Oliveira, Carla; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan (Elsevier, 2022)
    Background: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle ...

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