For patients and families facing a diagnosis of stomach cancer, dozens of questions emerge. Often we find that our primary care and even specialist physicians have limited time to review all of the current research about gastric cancer. Their focus needs to remain with the patient and the appropriate treatments for each case.
The CDH1 gene mutation was discovered using this DNA sequencing machine at the University of Otago, Dunedin, NZ in 1998. Parry Guilford is explaiing the process to Karen Chelcun Schreiber during her visit to NZ in February 2011.
However, patients and family members often want to search for more information on their own, as some of the founders of NSFC have done. Maintaining a comprehensive and complete bibliography of gastric cancer research is beyond the scope of NSFC, but with the assistance of our Scientific Advisory Board, we will occasionally provide access to new discoveries, particularly in the area of Hereditary Diffuse Gastric Cancer, where early identification of one’s risk and potential treatment strategies may be vitally important to a family attempting to manage the health of many individuals who test positive for the genetic cause of this deadly syndrome. Our source for these occasional reports will be our Scientific Advisory Board, and specifically the group of scientists who focus their research on Hereditary Diffuse Gastric Cancer syndrome.
This information is not intended as, nor should it be considered a substitute for, professional medical advice, professional diagnosis, opinion or treatment to you or to any other individual. Ask your physician or other healthcare provider to assist you in interpreting any informationon the website or links to other websites, in applying such information to your individual case.
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Research Studies
Outcomes and Quality of Life after Prophylactic Total Gastrectomy (Sep 2011)
Current HDGC Consensus Guidelines and Prophylactic Gastrectomy Research Papers
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research 12/07/09
Rebecca C Fitzgerald, Richard Hardwick, David Huntsman, et al.
Pregnancy after prophylactic total gastrectomy 01/09/10
Pardeep Kaurah, Rebecca Fitzgerald, Sarah Dwerryhouse, David Huntsman. Abstract Hereditary diffuse gastric cancer is an autosomal dominant inherited cancer predisposition syndrome characterized by susceptibility to diffuse gastric and lobular breast cancers. Since current screening options for diffuse gastric cancer are ineffective, prophylactic total gastrectomy (PTG) is a recommended option for unaffected germline CDH1 mutation carriers. It is unknown whether pregnancy after surgery is possible or advisable due to potential maternal nutritional deficiencies. In this report we describe the pregnancy outcomes in three CDH1 mutation positive women after PTG and in a CDH1 mutation negative woman after total gastrectomy for early gastric cancer.
Prophylactic total gastrectomy for hereditary diffuse gastric cancer: surgical and pathological results 05/15/09
S.S. Yoon, D. Patel, D.C. Chung, G.Y. LauwersDepartment of Surgery, Center for Cancer Risk Analysis, Department of Medicine, Department of Pathology, Massachusetts General Hospital, Boston MA 02115 USASummary: In this study, we examined the results of prophylactic total gastrectomy for patients with germline CDH1 (E-cadherin) mutation. The 8 patients (3 male, 5 female) had a median age of 42 (range 38-51). All patients had an upper endoscopy or chromoendoscopy prior to surgery with only one patient identified as having a focus of diffuse gastric cancer. All patients underwent a total gastrectomy with Roux-en-Y esophagojejunostomy. For pathological analysis, the entire gastric mucosa was examined microscopically, which required up to 490 sections. Only one patient had unremarkable pathology. The other 7 patients had 1-77 foci of noninvasive cancer, and two of these patients had 4-12 foci of T1 invasive cancer. Thus, the majority of patients with germline CDH1 mutation have foci of noninvasive or invasive gastric cancer by middle age. Serial endoscopy provides inadequate screening, and total prophylactic gastrectomy is the procedure of choice for definitive treatment.
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