Hereditary Diffuse Gastric Cancer


Authors: A. Puchmajerová 1;  P. Vasovčák 1;  E. Macháčková 2;  L. Foretová 2;  A. Křepelová 1
Authors‘ workplace: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha 1;  Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno 2
Published in: Klin Onkol 2012; 25(Supplementum): 30-33

Overview

Hereditary diffuse gastric cancer is an autosomal dominant syndrome with a high lifetime risk of diffuse gastric cancer and also a high risk of lobular breast carcinoma. Hereditary diffuse gastric cancer (HDGC) is characterized by late presentation and a poor prognosis. The average age of onset of HDGC is 38 years, with a range of 14–69 years. The estimated lifetime risk of developing gastric cancer by age 80 is 67% for men and 83% for women. Many families with HDGC have germline mutations in the E-cadherin (CDH1) gene. We describe indication for genetic testing of germline mutations in CDH1 gene, possibilities of predictive testing, preventive care, prophylactic gastrectomy and preimplantation diagnosis.

Key words:
diffuse gastric cancer – lobular breast cancer – CDH1 gene – prophylactic total gastrectomy

This study was supported by the project (Ministry of health, Czech Republic) for conceptual development of research organisation 00064203 (University hospital Motol, Prague, Czech Republic), by the European Regional Development Fund and by the Czech Republic´s national budget (OP VaVpI – RECaMO, CZ.1.05/2.1.00/03.0101).

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
26. 4. 2012

Accepted:
25. 6. 2012


Sources

1. Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer (HDGC). GeneReviews; Last Update: June 21, 2011.

2. Kaurah P, MacMillan A, Boyd N et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297(21): 2360–2372.

3. Lynch HT, Grady W, Suriano G et al. Gastric cancer: new genetic developments. J Surg Oncol 2005; 90(3): 114–133.

4. Lynch HT et al. Hereditary Diffuse Gastric Cancer, Diagnosis, Genetic Counseling, and Prophylactic Total Gastrectomy. Available at: www.interscience.wiley.com.

5. Masciari S, Larsson N, Senz J et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 2007; 44(11): 726–731.

6. Schrader KA, Masciari S, Boyd N et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet 2011; 48(1): 64–68.

7. Fitzgerald RC, Hardwick R, Huntsman D et al. Interna­tional Gastric Cancer Linkage Consortium; Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010; 47(7): 436–444.

8. Mayrbaeurl B, Keller G, Schauer W et al. Germline mutation of the E-cadherin gene in three sibling cases with advanced gastric cancer: clinical consequences for the other family members. Eur J Gastroenterol Hepatol 2010; 22(3): 306–310.

9. Norton JA, Ham CM, Van Dam J et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007; 245(6): 873–879.

10. Shaw D, Blair V, Framp A et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut 2005; 54(4): 461–468.

11. Barber ME, Save V, Carneiro F et al. Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol 2008; 216(3): 286–294.

12. Plevová et al. Syndrom hereditárního karcinomu prsu a ovarií. Klin Onkol 2009; 22 (Suppl): 8–11.

13. Kaurah P, Fitzgerald R, Dwerryhouse S et al. Pregnancy after prophylactic total gastrectomy. Fam Cancer 2010; 9(3): 331–334.

Labels
Paediatric clinical oncology Surgery Clinical oncology

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