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Clinical Implications of Founder and Recurrent CDH1 Mutations in Hereditary Diffuse Gastric Cancer
Kirsten N. Kangelaris, MD;
Stephen B. Gruber, MD, PhD, MPH
JAMA. 2007;297:2410-2411. Published online June 3, 2007 (doi:10.1001/jama.297.21.2410).
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Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant cancer susceptibility syndrome characterized by early onset diffuse gastric cancer and lobular breast cancer.1 The clinical presentation of this particular form of familial gastric cancer was described more than 40 years ago2 and the phenotype can be dramatic. One descendant of the original Maori kindred from New Zealand died of gastric cancer at the age of 14 years; more than 25 of his relatives have succumbed to cancer.3 In a Michigan family with HDGC, 1 family member died from gastric cancer at the age of 17 years, and numerous other family members died of metastatic disease before reaching age 50 years.4 Fortunately, genetic testing has already transformed the care of families with HDGC, and the tragic outcomes in these 2 representative families can now largely be avoided. Prophylactic gastrectomy has the potential . . . [Full Text of this Article]
Author Affiliations: Departments of Internal Medicine (Drs Kangelaris and Gruber), Epidemiology (Dr Gruber), and Human Genetics (Dr Gruber), University of Michigan, Ann Arbor.
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Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer
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JAMA. ;297():2360-2372.
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