Patients from HDGC families should be followed by physicians, genetic counselors, gastroenterologists, surgeons, pathologists, oncologists, dieticians, and other health professionals. Upper endoscopy with random gastric biopsies (small samples of tissue) is currently the best method to screen for stomach cancer. Unfortunately, diffuse gastric cancer often is not apparent on endoscopy, and biopsies are often negative.
The current screening recommendations are upper endoscopy with biopsies on an annual basis. If possible, biopsies should be reviewed by pathologists who are knowledgeable about hereditary diffuse gastric cancer. Because hereditary diffuse gastric cancer is nearly impossible to detect at an early stage, however, the recommended procedure to prevent stomach cancer is a total gastrectomy, or complete removal of the stomach. Although this procedure is complicated and commonly leads to weight loss, diarrhea, altered eating habits, and vitamin deficiency, it is possibly the only method to prevent stomach cancer in these families.
Ford JM. Inherited susceptibility to gastric cancer: advances in genetics and guidelines for clinical management. American Society of Clinical Oncology Educational Sessions. 2002:116-125.
Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. The New England Journal of Medicine. June 2001;344(25):1904-1909.
Francis WP, Rodrigues DM, Perez NE, Lonardo F, Weaver D, Webber JD. Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. Journal of the Society of Laparoendoscopic Surgeons. 2007;11:142-147.
Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, et al. Familial gastric cancer: overview and guidelines for management. Journal of Medical Genetics. 1999;36:873-880.
Vogelaar IP, van der Post RS, Carneiro F, Guilford P, Huntsman D, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;00:1-14.
Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, et al. CDH1 truncating mutations in the E-cadherin gene: An indication for total gastrectomy to treat hereditary diffuse gastric cancer. Annals of Surgery. 2007;245(6):873-879.
Chun, YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, et al. Germline E-cadherin gene mutations: Is prophylactic total gastrectomy indicated? Cancer. 2001;92(1):181-187.