Abstract
The management of families with hereditary diffuse gastric cancer is challenging as screening for cancer in CDH1 mutation carriers is insufficiently sensitive and the commonly recommended option, prophylactic total gastrectomy, is associated with certain morbidity and even potential mortality. We describe the particular challenges associated with the diagnosis and management of a large Jordanian family with hereditary diffuse gastric cancer. A preliminary pedigree enabled DNA testing for CDH1 mutation, denoted as c.1137G → A, on 4 family members; all were identified as mutation carriers. A family information service was then conducted in Amman, Jordan, where 40 family members gathered and we provided education and counseling. Signed permission enabled DNA collection for CDH1 germline mutation studies. Non-attendees were contacted and provided detailed information. Twenty-three family members have been tested for CDH1; 13 were positive and 10 were negative. The proband, a CDH1 mutation carrier, has undergone successful prophylactic total gastrectomy. We are hopeful that this model can be repeated throughout Jordan as well as other emerging countries where knowledge and action about hereditary cancer is lacking.
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Abbreviations
- DGC:
-
Diffuse gastric cancer
- FIS:
-
Family information service
- HDGC:
-
Hereditary diffuse gastric cancer
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Acknowledgements
This work was supported by revenue from Nebraska cigarette taxes awarded to Creighton University by the Nebraska Department of Health and Human Services. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Nebraska or the Nebraska Department of Health and Human Services. Dr. Henry Lynch’s work is partially funded through the Charles F. and Mary C. Heider Chair in Cancer Research, which he holds at Creighton University. We are grateful to David Huntsman, M.D., and Pardeep Kaurah, Ph.D., both of the Department of Pathology, British Columbia Cancer Agency, Vancouver BC, Canada, for their expertise in studying the CDH1 mutation throughout this family.
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Lynch, H.T., Aldoss, I. & Lynch, J.F. The identification and management of hereditary diffuse gastric cancer in a large Jordanian family. Familial Cancer 10, 667–672 (2011). https://doi.org/10.1007/s10689-011-9463-9
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DOI: https://doi.org/10.1007/s10689-011-9463-9