Vogelaar Ingrid P, van der Post Rachel S, van Krieken J Han Jm, Spruijt Liesbeth, van Zelst-Stams Wendy Ag, Kets C Marleen, Lubinski Jan, Jakubowska Anna, Teodorczyk Urszula, Aalfs Cora M, van Hest Liselotte P, Pinheiro Hugo, Oliveira Carla, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R, de Ligt Joep, Vissers Lisenka E L M, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Goeman Jelle J, Schackert Hans K, Ranzani Guglielmina N, Molinaro Valeria, Gómez García Encarna B, Hes Frederik J, Holinski-Feder Elke, Genuardi Maurizio, Ausems Margreet G E M, Sijmons Rolf H, Wagner Anja, van der Kolk Lizet E, Bjørnevoll Inga, Høberg-Vetti Hildegunn, van Kessel Ad Geurts, Kuiper Roland P, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline
Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.
Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70. All included individuals were tested negative for germline CDH1 mutations before or during the study. Variants that were possibly deleterious according to in silico predictions were filtered using several independent approaches that were based on gene function and gene mutation burden in controls. Despite a rigorous search, no obvious candidate GC predisposition genes were identified. This negative result stresses the importance of future research studies in large, homogeneous cohorts.
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