In a recent publication in Gastroenterology Chella van der Post, Dept. of Pathology, theme Tumors of the digestive tract, and colleagues published a study in which the internationally accepted hereditary diffuse gastric cancer (HDGC) criteria to select patients for germline CDH1 testing were evaluated in the Netherlands.
Germline CDH1 mutations confer a high lifetime risk to develop diffuse gastric cancer and lobular breast cancer for which preventive measures can be undertaken. In the Dutch study all individuals referred for germline CDH1 mutation analysis were categorized according to the HDGC criteria, that are based on age at diagnosis, histology and family history. Germline mutations were detected in only 4% of all individuals tested. If the HDGC criteria would have been strictly applied 3,5 times less patients would have been tested with a sensitivity of 89%. This demonstrates that these criteria enable more efficient selection of patients for CDH1 mutation analysis. Moreover, patients with gastric cancer and germline CDH1 mutations had shorter survival times than patients who met the HDGC criteria but did not have CDH1 mutations. This study was performed in close collaboration with all clinical genetic centers in the Netherlands.
van der Post, R. S., I. P. Vogelaar, P. Manders, L. E. van der Kolk, A. Cats, L. P. van Hest, R. Sijmons, C. M. Aalfs, M. G. Ausems, E. B. Gomez Garcia, A. Wagner, F. J. Hes, N. Arts, A. R. Mensenkamp, J. H. van Krieken, N. Hoogerbrugge and M. J. Ligtenberg (2015). "Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients with a Germline Mutation in CDH1." Gastroenterology.
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