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Familial gastric cancer - clinical management

Rebecca C Fitzgerald1, Carlos Caldas

  • 1MRC Cancer Cell Unit, Hutchison/MRC Research Centre, Cambridge, UK. rcf29@hutchison-mrc.cam.ac.uk

Best Practice & Research. Clinical Gastroenterology
|September 26, 2006
PubMed

Insights

Genetic testing for hereditary diffuse gastric cancer syndrome is crucial when E-cadherin gene (CDHI) mutations are found. Management includes surveillance endoscopy or prophylactic gastrectomy, with genetic counseling essential.

Area of Science:

  • Oncology
  • Genetics
  • Gastroenterology

Background:

  • Familial gastric cancer management currently mirrors sporadic cases.
  • Identification of causative mutations is key to developing targeted therapies.
  • Germline mutations in the E-cadherin gene (CDHI) account for ~30% of familial gastric cancer.

Purpose of the Study:

  • To discuss the implications of CDHI mutations in hereditary diffuse gastric cancer syndrome.
  • To outline the considerations for genetic testing in at-risk relatives.
  • To review management options: surveillance endoscopy and prophylactic gastrectomy.

Main Methods:

  • Review of clinical criteria for hereditary diffuse gastric cancer syndrome.
  • Discussion of genetic testing protocols for CDHI mutations.
  • Analysis of counseling, surveillance, and surgical management strategies.

Main Results:

  • CDHI mutations are the primary identified germline cause in a subset of familial gastric cancer.
  • Genetic testing of relatives is recommended upon identification of CDHI mutations in index patients.
  • Profound clinical implications necessitate pre-test genetic counseling.

Conclusions:

  • Genetic testing and counseling are vital for families with hereditary diffuse gastric cancer syndrome.
  • Management decisions involve balancing surveillance endoscopy against prophylactic gastrectomy.
  • Pooling experience from rare familial cases is essential for optimizing future surveillance and treatment.

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