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Principles of Clinical Cancer Genetics pp 97–107Cite as

Hereditary Diffuse Gastric Cancer

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Abstract

Gastric cancer is one of the leading worldwide causes of cancer death with about 866,000 deaths each year. The incidence varies tremendously throughout the world, with the highest incidence occurring in South Korea at 66.5–72.5 per 100,000 males and 19.5–30.4 per 100,000 females [1]. In contrast, incidence in the United States is about one-tenth that of South Korea, and the estimated number of new gastric cancer cases in the United States in 2008 was 21,500, and the estimated number of deaths was 10,880 [2]. Overall the rates of gastric adenocarcinoma have declined over the past 50 years, but there has been a significant increase in the subset of tumors of the proximal stomach and gastroesophageal junction [3].

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References

  1. Lee J et al (2007) Cancer incidence among Korean–American immigrants in the United States and native Koreans in South Korea. Cancer Control 14(1):78–85

    PubMed  Google Scholar 

  2. Jemal A et al (2008) Cancer statistics, 2008. CA Cancer J Clin 58(2):71–96

    Article  PubMed  Google Scholar 

  3. Crew KD, Neugut AI (2006) Epidemiology of gastric cancer. World J Gastroenterol 12(3):354–362

    PubMed  Google Scholar 

  4. Lauren P (1965) The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31–49

    PubMed  CAS  Google Scholar 

  5. Lynch HT et al (2005) Gastric cancer: new genetic developments. J Surg Oncol 90(3):114–133, discussion 133

    Article  PubMed  CAS  Google Scholar 

  6. Karpeh MS, Kelsen DP, Tepper JE (2001) Cancer of the stomach. In: DeVita VT, Hellman S, Rosenberg SA (eds) Cancer: principles and practice of oncology, 6th edn. Lippincott Williams & Wilkins, Philadelphia, pp 1092–1126

    Google Scholar 

  7. Sasazuki S, Sasaki S, Tsugane S (2002) Cigarette smoking, alcohol consumption and subsequent gastric cancer risk by subsite and histologic type. Int J Cancer 101(6):560–566

    Article  PubMed  CAS  Google Scholar 

  8. Kobayashi M et al (2002) Vegetables, fruit and risk of gastric cancer in Japan: a 10-year follow-up of the JPHC Study Cohort I. Int J Cancer 102(1):39–44

    Article  PubMed  CAS  Google Scholar 

  9. Serafini M et al (2002) Total antioxidant potential of fruit and vegetables and risk of gastric cancer. Gastroenterology 123(4):985–991

    Article  PubMed  CAS  Google Scholar 

  10. Jones EG (1964) Familial gastric cancer. N Z Med J 63:287–296

    PubMed  CAS  Google Scholar 

  11. Guilford P et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392(6674):402–405

    Article  PubMed  CAS  Google Scholar 

  12. Guilford PJ et al (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14(3):249–255

    Article  PubMed  CAS  Google Scholar 

  13. Gayther SA et al (1998) Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 58(18):4086–4089

    PubMed  CAS  Google Scholar 

  14. Kaurah P et al (2007) Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 297(21):2360–2372

    Article  PubMed  CAS  Google Scholar 

  15. Richards FM et al (1999) Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 8(4):607–610

    Article  PubMed  CAS  Google Scholar 

  16. Park JG et al (2000) Report on the first meeting of the International Collaborative Group on Hereditary Gastric Cancer. J Natl Cancer Inst 92(21):1781–1782

    Article  PubMed  CAS  Google Scholar 

  17. Pedrazzani C et al (2007) E-cadherin and hereditary diffuse gastric cancer. Surgery 142(5):645–657

    Article  PubMed  Google Scholar 

  18. Brooks-Wilson AR et al (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41(7):508–517

    Article  PubMed  CAS  Google Scholar 

  19. Oliveira C et al (2009) Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 18(9):1545–1555

    Article  PubMed  CAS  Google Scholar 

  20. Berx G et al (1995) E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14(24):6107–6115

    PubMed  CAS  Google Scholar 

  21. Grunwald GB (1993) The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules. Curr Opin Cell Biol 5(5):797–805

    Article  PubMed  CAS  Google Scholar 

  22. Chan AO (2006) E-cadherin in gastric cancer. World J Gastroenterol 12(2):199–203

    PubMed  CAS  Google Scholar 

  23. Becker KF et al (1994) E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res 54(14):3845–3852

    PubMed  CAS  Google Scholar 

  24. Grady WM et al (2000) Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet 26(1):16–17

    Article  PubMed  CAS  Google Scholar 

  25. Keller G et al (1999) Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 155(2):337–342

    Article  PubMed  CAS  Google Scholar 

  26. Schrader KA et al (2008) Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 7(1):73–82

    Article  PubMed  Google Scholar 

  27. Norton JA 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(6):873–879

    Article  PubMed  Google Scholar 

  28. Birchmeier W (1995) E-cadherin as a tumor (invasion) suppressor gene. Bioessays 17(2):97–99

    Article  PubMed  CAS  Google Scholar 

  29. Birchmeier W, Hulsken J, Behrens J (1995) E-cadherin as an invasion suppressor. Ciba Found Symp 189:124–136, discussion 136–141, 174–176

    PubMed  CAS  Google Scholar 

  30. Carneiro F et al (1999) E-cadherin changes in gastric carcimona. Histopathology 35(5):477–478

    Article  PubMed  CAS  Google Scholar 

  31. Oliveira C et al (2009) Quantification of epigenetic and genetic second hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136(7):2137–2148.

    Article  PubMed  CAS  Google Scholar 

  32. Machado JC et al (2001) E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma. Oncogene 20(12):1525–1528

    Article  PubMed  CAS  Google Scholar 

  33. Oliveira C et al (2004) Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene 23(12):2236–2240

    Article  PubMed  CAS  Google Scholar 

  34. Tamura G et al (2000) E-Cadherin gene promoter hypermethylation in primary human gastric carcinomas. J Natl Cancer Inst 92(7):569–573

    Article  PubMed  CAS  Google Scholar 

  35. Graziano F et al (2004) Prognostic analysis of E-cadherin gene promoter hypermethylation in patients with surgically resected, node-positive, diffuse gastric cancer. Clin Cancer Res 10(8):2784–2789

    Article  PubMed  CAS  Google Scholar 

  36. Graziano F et al (2004) Combined analysis of E-cadherin gene (CDH1) promoter hypermethylation and E-cadherin protein expression in patients with gastric cancer: implications for treatment with demethylating drugs. Ann Oncol 15(3):489–492

    Article  PubMed  CAS  Google Scholar 

  37. Suriano G et al (2003) E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. Hum Mol Genet 12(22):3007–3016

    Article  PubMed  CAS  Google Scholar 

  38. Suriano G et al (2003) The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell–cell adhesion and to suppress invasion. Oncogene 22(36):5716–5719

    Article  PubMed  CAS  Google Scholar 

  39. Suriano G et al (2005) Beta-catenin (CTNNB1) gene amplification: a new mechanism of protein overexpression in cancer. Genes Chromosomes Cancer 42(3):238–246

    Article  PubMed  CAS  Google Scholar 

  40. Oliveira C et al (2004) E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. Eur J Cancer 40(12):1897–1903

    Article  PubMed  CAS  Google Scholar 

  41. Caldas C et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36(12):873–880

    PubMed  CAS  Google Scholar 

  42. Pharoah PD, Guilford P, Caldas C (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121(6):1348–1353

    Article  PubMed  CAS  Google Scholar 

  43. Vasen HF et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110(4):1020–1027

    Article  PubMed  CAS  Google Scholar 

  44. Aarnio M et al (1997) Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer 74(5):551–555

    Article  PubMed  CAS  Google Scholar 

  45. Giardiello FM et al (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119(6):1447–1453

    Article  PubMed  CAS  Google Scholar 

  46. Masciari S et al (2007) Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 44(11):726–731

    Article  PubMed  CAS  Google Scholar 

  47. Oliveira C, Seruca R, Caldas C (2003) Genetic screening for hereditary diffuse gastric cancer. Expert Rev Mol Diagn 3(2):201–215

    Article  PubMed  CAS  Google Scholar 

  48. Suriano G et al (2005) Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 11(15):5401–5409

    Article  PubMed  CAS  Google Scholar 

  49. Mullins FM et al (2007) Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays. Genet Med 9(11):752–760

    Article  PubMed  CAS  Google Scholar 

  50. Charlton A et al (2004) Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 53(6):814–820

    Article  PubMed  CAS  Google Scholar 

  51. Huntsman DG et al (2001) Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 344(25):1904–1909

    Article  PubMed  CAS  Google Scholar 

  52. Blair V et al (2006) Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol 4(3):262–275

    Article  PubMed  CAS  Google Scholar 

  53. Tatsuta M et al (1982) Endoscopic diagnosis of early gastric cancer by the endoscopic Congo red-methylene blue test. Cancer 50(12):2956–2960

    Article  PubMed  CAS  Google Scholar 

  54. Iishi H, Tatsuta M, Okuda S (1988) Diagnosis of simultaneous multiple gastric cancers by the endoscopic Congo red-methylene blue test. Endoscopy 20(2):78–82

    Article  PubMed  CAS  Google Scholar 

  55. Shaw D et al (2005) Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut 54(4):461–468

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  57. van Kouwen MC et al (2004) [18F]Fluoro-2-deoxy-d-glucose positron emission tomography detects gastric carcinoma in an early stage in an asymptomatic E-cadherin mutation carrier. Clin Cancer Res 10(19):6456–6459

    Article  PubMed  Google Scholar 

  58. Yamada A et al (2006) Evaluation of 2-deoxy-2-[18F]fluoro-d-glucose positron emission tomography in gastric carcinoma: relation to histological subtypes, depth of tumor invasion, and glucose transporter-1 expression. Ann Nucl Med 20(9):597–604

    Article  PubMed  CAS  Google Scholar 

  59. Chung DC et al (2007) Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer. N Engl J Med 357(3):283–291

    Article  PubMed  CAS  Google Scholar 

  60. Chun YS et al (2001) Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 92(1):181–187

    Article  PubMed  CAS  Google Scholar 

  61. Lewis FR et al (2001) Prophylactic total gastrectomy for familial gastric cancer. Surgery 130(4):612–617, discussion 617–619

    Article  PubMed  CAS  Google Scholar 

  62. Rogers WM et al (2008) Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol 32(6):799–809

    Article  PubMed  Google Scholar 

  63. Hartgrink HH et al (2004) Extended lymph node dissection for gastric cancer: who may benefit? Final results of the randomized Dutch gastric cancer group trial. J Clin Oncol 22(11):2069–2077

    Article  PubMed  CAS  Google Scholar 

  64. Park DJ et al (2005) Predictors of operative morbidity and mortality in gastric cancer surgery. Br J Surg 92(9):1099–1102

    Article  PubMed  CAS  Google Scholar 

  65. Wanebo HJ et al (1993) Cancer of the stomach. A patient care study by the American College of Surgeons. Ann Surg 218(5):583–592

    Article  PubMed  CAS  Google Scholar 

  66. Fujimoto S et al (1991) Stapled or manual suturing in esophagojejunostomy after total gastrectomy: a comparison of outcome in 379 patients. Am J Surg 162(3):256–259

    Article  PubMed  CAS  Google Scholar 

  67. Seufert RM, Schmidt-Matthiesen A, Beyer A (1990) Total gastrectomy and oesophagojejunostomy – a prospective randomized trial of hand-sutured versus mechanically stapled anastomoses. Br J Surg 77(1):50–52

    Article  PubMed  CAS  Google Scholar 

  68. Hyodo M et al (2007) Minimum leakage rate (0.5%) of stapled esophagojejunostomy with sacrifice of a small part of the jejunum after total gastrectomy in 390 consecutive patients. Dig Surg 24(3):169–172

    Article  PubMed  CAS  Google Scholar 

  69. Donovan IA et al (1982) Bile diversion after total gastrectomy. Br J Surg 69(7):389–390

    Article  PubMed  CAS  Google Scholar 

  70. Lehnert T, Buhl K (2004) Techniques of reconstruction after total gastrectomy for cancer. Br J Surg 91(5):528–539

    Article  PubMed  CAS  Google Scholar 

  71. Fein M et al (2008) Long-term benefits of Roux-en-Y pouch reconstruction after total gastrectomy: a randomized trial. Ann Surg 247(5):759–765

    Article  PubMed  Google Scholar 

  72. Roviello F et al (2007) High incidence of familial gastric cancer in Tuscany, a region in Italy. Oncology 72(3–4):243–247

    Article  PubMed  Google Scholar 

  73. Dulucq JL et al (2005) Completely laparoscopic total and partial gastrectomy for benign and malignant diseases: a single institute’s prospective analysis. J Am Coll Surg 200(2):191–197

    Article  PubMed  Google Scholar 

  74. Usui S et al (2005) Laparoscopy-assisted total gastrectomy for early gastric cancer: comparison with conventional open total gastrectomy. Surg Laparosc Endosc Percutan Tech 15(6):309–314

    Article  PubMed  Google Scholar 

  75. Miholic J et al (1990) Nutritional consequences of total gastrectomy: the relationship between mode of reconstruction, postprandial symptoms, and body composition. Surgery 108(3):488–494

    PubMed  CAS  Google Scholar 

  76. Francis A et al (2001) The diagnosis of invasive lobular breast carcinoma. Does MRI have a role? Breast 10(1):38–40

    CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Surgery, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA

    Sam S. Yoon

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  1. Prakash K. Pandalai
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  2. Sam S. Yoon
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Editors and Affiliations

  1. Cancer Center and Gastrointestinal Unit, Harvard Medical School, Massachusetts General Hospital, Boston, 02114, USA

    Daniel C. Chung

  2. Cancer Center, Harvard Medical School and, Massachusetts General Hospital, Boston, 02114, USA

    Daniel A. Haber

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Pandalai, P.K., Yoon, S.S. (2010). Hereditary Diffuse Gastric Cancer. In: Chung, D., Haber, D. (eds) Principles of Clinical Cancer Genetics. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-93846-2_8

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  • DOI: https://doi.org/10.1007/978-0-387-93846-2_8

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