Clinical implications of E-cadherin associated hereditary diffuse gastric cancer

Gut

Volumn 53, Issue 6, 2004, Pages 775-778

  Fitzgerald, R C ^a   Caldas, C ^a  

^a HUTCHISON MRC RESEARCH CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

UVOMORULIN;

AUTOSOMAL DOMINANT INHERITANCE; CANCER CLASSIFICATION; CANCER REGISTRY; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; ENDOSCOPY; FAMILIAL CANCER; GASTRECTOMY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC PREDISPOSITION; HEALTH SURVEY; HEREDITARY DIFFUSE GASTRIC CANCER; HUMAN; INTESTINE; LINKAGE ANALYSIS; PRIORITY JOURNAL; REVIEW; STOMACH CARCINOMA;

CADHERINS; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PEDIGREE; RISK FACTORS; STOMACH NEOPLASMS;

EID: 2442716203     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2003.022061     Document Type: Review

References (37)

1. Sokoloff B. Predisposition to cancer in the Bonaparte family. Am J Surg 1938;40:673-8.
2. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110:1020-7.
3. Keller G, Rudelius M, Vogelsang H, et al. Microsatellite instability and loss of heterozygosity in gastric carcinoma in comparison to family history. Am J Pathol 1998;152:1281-9.
4. Varley JM, McGown G, Thorncroft M, et al. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet 1995;32:942-5.
5. La Vecchia C, Negri E, Franceschi S, et al. Family history and the risk of stomach and colorectal cancer. Cancer 1992;70:50-5.
6. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998;392:402-5.
7. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet 1999;36:873-80.
8. Oliveira C, Bordin MC, Grehan N, et al. Screening E-cadherin in gastric cancer families reveals germ-line mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002;19:510-17.
9. Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001;121:1348-53.
10. Guilford PJ, Hopkins JB, Grady WM, et al. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 1999;14:249-55.
11. Richards FM, McKee SA, Rajpar MH, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999;8:607-10.
12. Berx G, Becker KF, Hofler H, et al. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998;12:226-37.
13. Grady WM, Willis J, Guilford PJ, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet 2000;26:16-7.
14. Graff JR, Herman JG, Lapidus RG, et al. E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res 1995;55:5195-9.
15. Graff JR, Greenberg VE, Herman JG, et al. Distinct patterns of E-cadherin CpG island methylation in papillary, follicular, Hurthle's cell, and poorly differentiated human thyroid carcinoma. Cancer Res 1998;58:2063-6.
16. Yashiura K, Kanai Y, Ochiai A, et al. Silencing af the E-cadherin invasion-suppressor gene by CpG methylation in human carcinomas. Proc Natl Acad Sci U S A 1995;92:7416-9.
17. Charlton A, Blair V, Shaw D, et al. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 2004;53:814-20.
18. Rembacken B, Fujii T, Kondo H, The recognition and endoscopic treatment of early gastric and colonic cancer. Best Pract Res Clin Gastroenterol 2001;15:317-36.
19. McColl KE, El-Omar E. E-cadherin germline mutations and risk of gastric cancer. Gastroenterology 2002;123:1406.
20. Renkonen-Sinisalo L, Sipponen P, Aarnio M, et al. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol 2002;37:574-7.
21. Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 2001;344:1904-9.
22. Chun YS, Lindor NM, Smyrk TC, et al. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 2001;92:181-7.
23. Lewis FR, Mellinger JD, Hayashi A, et al. Prophylactic total gastrectomy for familial gastric cancer. Surgery 2001;130:612-7.
24. Keller G, Vogelsang H, Becker I, et al. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 1999;155:337-42.
25. Oliveira C, Seruca R, Caldas C. Genetic screening for hereditary diffuse gastric cancer. Expert Rev Mol Diagn 2003;3:201-15.
26. Berx G, Cleton-Jansen AM, Nollet F, et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 1995;14:6107-15.
27. Salahshor S, Hou H, Diep CB, et al. A germline E-cadherin mutation in a family with gastric and colon cancer. Int J Mol Med 2001;8:439-43.
28. Miholic J, Meyer HJ, Kotzerke J, et al. Emptying of the gastric substitute after total gastrectomy. Jejunal interposition versus Roux-y esophagojejunostomy. Ann Surg 1989;210:165-72.
29. Miholic J, Meyer HJ, Muller MJ, et al. Nutritional consequences of total gastrectomy: the relationship between mode of reconstruction, postprandial symptoms, and body composition. Surgery 1990;108:488-94.
30. Cuschieri A. Jejunal pouch reconstruction after total gastrectomy for cancer: experience in 29 patients. Br J Surg 1990;77:421-4.
31. Fitzgerald RC, Caldas C. E-cadherin mutations and hereditary gastric cancer: prevention by resection? Dig Dis 2002;20:23-31.
32. Becker KF, Atkinson MJ, Reich U, et al. E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res 1994;54:3845-52.
33. Becker KF, Hofler H. Frequent somatic allelic inactivation of the E-cadherin gene in gastric carcinomas. J Natl Cancer Inst 1995;87:1082-4.
34. Machado JC, Soares P, Carneiro F, et al. E-cadherin gene mutations provide a genetic basis for the phenotypic divergence of mixed gastric carcinomas. Lab Invest 1999;79:459-65.
35. Oda T, Kanai Y, Oyama T, et al. E-cadherin gene mutations in human gastric carcinoma cell lines. Proc Natl Acad Sci U S A 1994;91:1858-62.
36. Suriano G, Oliveira C, Ferreira P, et al. Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. Hum Mol Genet 2003;12:575-82.
37. Easton D, Peto J. The contribution of inherited predisposition to cancer incidence. Cancer Surv 1990;9:395-416.