Cancer Institute A national cancer institute
designated cancer center

Jeffrey Norton

Publication Details

  • Hereditary diffuse gastric cancer: surgery, surveillance and unanswered questions FUTURE ONCOLOGY Cisco, R. M., Norton, J. A. 2008; 4 (4): 553-559


    Hereditary diffuse gastric cancer (HDGC) is an inherited cancer-susceptibility syndrome characterized by autosomal dominance and high penetrance. In 30-50% of cases, a causative germline mutation in CDH1, the E-cadherin gene, may be identified. Female carriers of CDH1 mutations also have an increased (20-40%) risk of lobular breast cancer. Endoscopic surveillance of patients with CDH1 mutations is ineffective because early foci of HDGC are typically small and underlie normal mucosa. CDH1 mutation carriers are therefore offered the option of prophylactic gastrectomy, which commonly reveals early foci of invasive signet-ring cell cancer. We review recommendations for genetic testing, surveillance and prophylactic surgery in HDGC. Areas for future research are discussed, including development of new screening modalities, optimal timing of prophylactic gastrectomy, identification of additional causative mutations in HDGC, management of patients with CDH1 missense mutations and prevention/early detection of lobular breast cancer in CDH1 mutation carriers.

    View details for DOI 10.2217/14796694.4.4.553

    View details for Web of Science ID 000261774900013

    View details for PubMedID 18684065

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