Skip to main content

Advertisement

Log in

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of >80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC, prophylactic gastrectomy is advised for this patient group. Little is known about other types of familial gastric cancer. The Dutch working group on hereditary gastric cancer has formulated guidelines for various aspects of medical management for families and individuals at high risk of developing gastric cancer, including criteria for referral, classification, diagnostics, and periodic gastric surveillance. These guidelines are not limited to HDGC and are therefore partially complementary to the guidelines on hereditary diffuse gastric cancer of the international gastric cancer linkage consortium (IGCLC 2010). In order to optimize the care and increase the knowledge on hereditary gastric cancer it is important to centralize medical care for these patients. National and international collaboration is warranted to improve the quality of research by increasing the size of study cohorts.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Parkin DM, Bray F, Ferlay J, Pisani P (2005) Global cancer statistics, 2002. CA Cancer J Clin 55:74–108. doi:10.3322/canjclin.55.2.74

    Article  PubMed  Google Scholar 

  2. Yamaoka Y, Kato M, Asaka M (2008) Geographic differences in gastric cancer incidence can be explained by differences between Helicobacter pylori strains. Intern Med 47:1077–1083. doi:10.2169/internalmedicine.47.0975

    Article  PubMed  Google Scholar 

  3. Helicobacter and Cancer Collaborative Group (2001) Gastric cancer and Helicobacter pylori: a combined analysis of 12 case control studies nested within prospective cohorts. Gut 49:347–353. doi:10.1136/gut.49.3.347

    Article  Google Scholar 

  4. Tsugane S, Sasazuki S (2007) Diet and the risk of gastric cancer: review of epidemiological evidence. Gastric Cancer 10:75–83. doi:10.1007/s10120-007-0420-0

    Article  PubMed  Google Scholar 

  5. Ladeiras-Lopes R, Pereira AK, Nogueira A et al (2008) Smoking and gastric cancer: systematic review and meta-analysis of cohort studies. Cancer Causes Control 19:689–701. doi:10.1007/s10552-008-9132-y

    Article  PubMed  Google Scholar 

  6. Camargo MC, Anderson WF, King JB et al (2011) Divergent trends for gastric cancer incidence by anatomical subsite in US adults. Gut [Epub ahead of print]

  7. Lauren PA, Nevalainen TJ (1993) Epidemiology of intestinal and diffuse types of gastric carcinoma. A time-trend study in Finland with comparison between studies from high- and low-risk areas. Cancer 71:2926–2933. doi:10.1002/1097-0142(19930515)71:10<2926:AID-CNCR2820711007>3.0.CO;2-X

    Article  PubMed  CAS  Google Scholar 

  8. El-Rifai W, Powell SM (2002) Molecular and biologic basis of upper gastrointestinal malignancy. Gastric carcinoma. Surg Oncol Clin N Am 11:273–291. doi:10.1053/srao.2002.30815

    Article  PubMed  Google Scholar 

  9. Gonzalez CA, Sala N, Capella G (2002) Genetic susceptibility and gastric cancer risk. Int J Cancer 100:249–260. doi:10.1002/ijc.10466

    Article  PubMed  CAS  Google Scholar 

  10. Hemminki K, Li X, Czene K (2004) Familial risk of cancer: data for clinical counseling and cancer genetics. Int J Cancer 108:109–114. doi:10.1002/ijc.11478

    Article  PubMed  CAS  Google Scholar 

  11. Lynch HT, Grady W, Suriano G, Huntsman D (2005) Gastric cancer: new genetic developments. J Surg Oncol 90:114–133. doi:10.1002/jso.20214

    Article  PubMed  CAS  Google Scholar 

  12. Fitzgerald RC, Hardwick R, Huntsman D et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444. doi:10.1136/jmg.2009.074237

    Article  PubMed  CAS  Google Scholar 

  13. Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405. doi:10.1038/32918

    Article  PubMed  CAS  Google Scholar 

  14. Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1–10. doi:10.1007/s10120-009-0531-x

    Article  PubMed  CAS  Google Scholar 

  15. Carneiro F, Huntsman DG, Smyrk TC et al (2004) Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. J Pathol 203:681–687. doi:10.1002/path.1564

    Article  PubMed  CAS  Google Scholar 

  16. Humar B, Guilford P (2009) Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci 100:1151–1157. doi:10.1111/j.1349-7006.2009.01163.x

    Article  PubMed  CAS  Google Scholar 

  17. Kluijt I, Siemerink E, Ausems MGEM et al (2011) CDH1 related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer. doi:10.1002/ijc.26398 [Epub ahead of print]. PMID: 22020549

    PubMed  Google Scholar 

  18. Norton JA, Ham CM, Van DJ et al (2007) CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 245:873–879. doi:10.1097/01.sla.0000254370.29893.e4

    Article  PubMed  Google Scholar 

  19. Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubinski J (2002) BRCA2 gene mutations in families with aggregations of breast and stomach cancers. Br J Cancer 87:888–891. doi:10.1038/sj.bjc.6600562

    Article  PubMed  CAS  Google Scholar 

  20. Friedenson B (2005) BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian. Med Gen Med 7:60

    Google Scholar 

  21. Capelle LG, van Grieken NC, Lingsma HF et al (2010) Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 138:487–492. doi:10.1053/j.gastro.2009.10.051

    Article  PubMed  Google Scholar 

  22. Park SY, Ryu JK, Park JH et al (2011) Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in korean patients with familial adenomatous polyposis. Gut Liver 5:46–51. doi:10.5009/gnl.2011.5.1.46

    Article  PubMed  Google Scholar 

  23. Lynch HT, Snyder C, Davies JM et al (2010) FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review. Fam Cancer 9:581–588. doi:10.1007/s10689-010-9353-7

    Article  PubMed  Google Scholar 

  24. Win AK, Hopper JL, Jenkins MA (2011) Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer 10:1–9. doi:10.1002/ijc.25870

    Article  PubMed  Google Scholar 

  25. van Lier MG, Westerman AM, Wagner A et al (2011) High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut 60:141–147. doi:10.1136/gut.2010.223750

    Article  PubMed  Google Scholar 

  26. Pollock J, Welsh JS (2011) Clinical cancer genetics: part I: gastrointestinal. Am J Clin Oncol 34:332–336. doi:10.1097/COC.0b13e3181dea432

    Article  PubMed  Google Scholar 

  27. Masciari S, Dewanwala A, Stoffel EM et al (2011) Gastric cancer in individuals with Li-Fraumeni syndrome. Genet Med 13:651–657. doi:10.1097/GIM.0b013e31821628b6

    Article  PubMed  Google Scholar 

  28. Stanich PP, Francis DL, Sweetser S (2011) The spectrum of findings in Cowden syndrome. Clin Gastroenterol Hepatol 9:e2–e3

    Article  PubMed  Google Scholar 

  29. Songun I, Putter H, Kranenbarg EM, Sasako M, van de Velde CJH (2010) Surgical treatment of gastric cancer: 15-year follow-up results of the randomised nationwide Dutch D1D2 trial. Lancet Oncol 11:439–449. doi:10.1016/S1470-2045(10)70070-X

    Article  PubMed  Google Scholar 

  30. Park CM, Reid PE, Walker DC, MacPherson BR (1987) A simple, practical ‘swiss roll’ method of preparing tissues for paraffin or methacrylate embedding. J Microsc 145:115–120

    Article  PubMed  CAS  Google Scholar 

  31. Correa P (2004) The biological model of gastric carcinogenesis. IARC Sci Publ 157:301–310

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Irma Kluijt.

Additional information

This study is conducted on behalf of the Dutch Working Group on Hereditary Gastric Cancer

Please refer the Appendix section for Dutch Working Group on Hereditary Gastric Cancer group members

Appendix

Appendix

Clinical Genetics: M. G. E. M. Ausems (Utrecht), N. Hoogerbrugge (Nijmegen), I. Kluijt (Amsterdam), R. H. Sijmons (Groningen), A. Wagner (Rotterdam)

Gastroenterologists: A. Cats, E. Dekker, K. Tytgat (Amsterdam), J. H. Kleibeuker (Groningen), H. F. A. Vasen (The Netherlands Foundation for Detection of Hereditary Tumours)

Molecular Genetics: M. Ligtenberg (Nijmegen)

Surgical Oncology: R. van Hillegersberg (Utrecht), J. T. Plukker (Groningen)

Pathology: N. C. T. van Grieken (Amsterdam), D. de Jong (Amsterdam), J. H. van Krieken (Nijmegen)

Psychology: E. Bleiker (Amsterdam)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kluijt, I., Sijmons, R.H., Hoogerbrugge, N. et al. Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance. Familial Cancer 11, 363–369 (2012). https://doi.org/10.1007/s10689-012-9521-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-012-9521-y

Keywords

Navigation