The identification and management of hereditary diffuse gastric cancer in a large Jordanian family

Henry T. Lynch, Ibrahim Aldoss, Jane F. Lynch

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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. Nonattendees 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.

Original languageEnglish (US)
Pages (from-to)667-672
Number of pages6
JournalFamilial cancer
Issue number4
StatePublished - Dec 2011

All Science Journal Classification (ASJC) codes

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research


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