Hereditary diffuse gastric cancer: Translation of CDH1 germline mutations into clinical practice

Gastric Cancer

Volumn 13, Issue 1, 2010, Pages 1-10

  Guilford, Parry ^a   Humar, Bostjan ^a   Blair, Vanessa ^b  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

E cadherin; Hereditary diffuse gastric cancer

Indexed keywords

UVOMORULIN; CADHERIN; CDH1 PROTEIN, HUMAN;

ADVANCED CANCER; ALLELE; BREAST CANCER; CANCER RISK; CANCER STAGING; CDH1 GENE; CLINICAL PRACTICE; DNA METHYLATION; ESOPHAGOJEJUNOSTOMY; FAMILIAL CANCER; FOLLOW UP; GASTRECTOMY; GASTROSCOPY; GENE DELETION; GENE INACTIVATION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; GERM LINE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUTRITIONAL DISORDER; ONCOGENE; PENETRANCE; PRIORITY JOURNAL; PROGNOSIS; PROMOTER REGION; REVIEW; ROUX Y ANASTOMOSIS; SIGNET RING CARCINOMA; STOMACH ADENOCARCINOMA; STOMACH CANCER; SURGICAL APPROACH; SURGICAL TECHNIQUE; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATHOLOGY; RISK FACTOR; STOMACH TUMOR;

CADHERINS; CARCINOMA, SIGNET RING CELL; GASTRECTOMY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; PENETRANCE; PROGNOSIS; RISK FACTORS; STOMACH NEOPLASMS;

EID: 77954673384     PISSN: 14363291     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10120-009-0531-x     Document Type: Review

References (79)

1. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998;392:402-5.
2. Guilford P, Hopkins J, Grady W, Markowitz S, Willis J, Lynch H, et al. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 1999;14:249-55.
3. Lauren P. 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 1965;64:31-49.
4. Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet 1999;36:873-80.
5. 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.
6. Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, et al. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005;11:5401-9.
7. Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007;297:2360-72.
8. Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007;245:873-9.
9. Jonsson BA, Bergh A, Stattin P, Emmanuelsson M, Gronberg H. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer 2002;98:838-43.
10. Suriano G, Oliveira C, Ferreira P, Machado JC, Bordin MC, De Wever O, 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.
11. More H, Humar B, Weber W, Ward R, Christian A, Lintott C, et al. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 2007;28:203-11.
12. Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006;43:138-42.
13. Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, et al. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 2009;18:1545-55.
14. Humar B, Graziano F, Cascinu S, Catalano V, Ruzzo AM, Magnani M, et al. Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer. Oncogene 2002;21:8192-5. (Pubitemid 35454423)
15. Nasri S, More H, Graziano F, Ruzzo A, Wilson E, Dunbier A, et al. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population. BMC Cancer 2008;8:138-46.
16. Schrader KA, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, et al. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 2008;7:73-82.
17. Berx G, Becker K-F, Hofler H, Roy Fv. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998;12:226-37.
18. Becker K-F, Reich U, Schott C, Becker I, Berx G, Roy Fv, et al. Identification of 11 novel tumor-associated E-cadherin mutations. Hum Mutat 1998;13:171-5.
19. Crabtree MD, Tomlinson IP, Talbot IC, Phillips RK. Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age. Gut 2001;49:540-3.
20. Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 2001;344:1904-9.
21. Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, et al. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 2001;92:181-7.
22. Charlton A, Blair V, Shaw D, Parry S, Guilford P, Martin IG. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 2004;53:814-20.
23. Carneiro F, Huntsman DG, Smyrk TC, Owen DA, Seruca R, Pharoah P, et al. Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. J Pathol 2004;203:681-7.
24. Humar B, Fukuzawa R, Blair V, Dunbier A, More H, Charlton A, et al. Destabilized adhesion in the gastric proliferative zone and c-Src kinase activation mark the development of early diffuse gastric cancer. Cancer Res 2007;67:2480-9.
25. Sunagawa M, Takeshita K, Nakajima A, Ochi K, Habu H, Endo M. Duration of ENNG administration and its effect on histological differentiation of experimental gastric cancer. Br J Cancer 1985;52:771-9.
26. Ward JM, Weisburger EK. Intestinal tumors in mice treated with a single injection of N-nitroso-N-butylurea. Cancer Res 1975;35:1938-43.
27. Bleuming SA, He XC, Kodach LL, Hardwick JC, Koopman FA, Ten Kate FJ, et al. Bone morphogenetic protein signaling suppresses tumorigenesis at gastric epithelial transition zones in mice. Cancer Res 2007;67:8149-55.
28. Hohenstein P, Molenaar L, Elsinga J, Morreau H, van der Klift H, Struijk A, et al. Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene. Genes Chromosomes Cancer 2003;36:273-82.
29. Rogers WM, Dobo E, Norton JA, Van Dam J, Jeffrey RB, Huntsman DG, et al. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol 2008;32:799-809.
30. Blair V. Hereditary diffuse gastric cancer: of mice and man. PhD thesis, University of Auckland, New Zealand, 2009.
31. Barber ME, Save V, Carneiro F, Dwerryhouse S, Lao-Sirieix P, Hardwick RH, 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;216:286-94.
32. Humar B, Blair V, Charlton A, More H, Martin I, Guilford P. E-cadherin deficiency initiates gastric signet-ring cell carcinoma in mice and man. Cancer Res 2009;69:2050-6.
33. Karam SM, Straiton T, Hassan WM, Leblond CP. Defining epithelial cell progenitors in the human oxyntic mucosa. Stem Cells 2003;21:322-36.
34. Sugihara H, Hattori T, Fukuda M, Fujita S. Cell proliferation and differentiation in intramucosal and advanced signet ring cell carcinomas of the human stomach. Virchows Arch A Pathol Anat Histopathol 1987;411:117-27.
35. Humar B, Guilford P. Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci 2009;100:1151-7.
36. Baba Y, Iyama K, Ikeda K, Ishikawa S, Hayashi N, Miyanari N, et al. Differential expression of basement membrane type IV collagen alpha chains in gastric intramucosal neoplastic lesions. J Gastroenterol 2007;42:874-80.
37. Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carrico R, Senz J, et al. Quantification of epigenetic and genetic second hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 2009;136:2137-48.
38. Le Borgne R, Bellaiche Y, Schweisguth F. Drosophila E-cadherin regulates the orientation of asymmetric cell division in the sensory organ lineage. Curr Biol 2002;12:95-104.
39. den Elzen N, Buttery CV, Maddugoda MP, Ren G, Yap AS. Cadherin adhesion receptors orient the mitotic spindle during symmetric cell division in mammalian epithelia. Mol Biol Cell 2009;20:3740-50.
40. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 2004;41:508-17.
41. Lewis FR, Mellinger JD, Hayashi A, Lorelli D, Monaghan KG, Carneiro F, et al. Prophylactic total gastrectomy for familial gastric cancer. Surgery 2001;130:612-7; discussion 617-9.
42. Lehnert T, Buhl K. Techniques of reconstruction after total gastrectomy for cancer. Br J Surg 2004;91:528-39.
43. Blair V, Martin I, Shaw D, Winship I, Kerr D, Arnold J, et al. Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol 2006;4:262-75.
44. Liedman B. Symptoms after total gastrectomy on food intake, body composition, bone metabolism, and quality of life in gastric cancer patients-is reconstruction with a reservoir worthwhile? Nutrition 1999;15:677-82.
45. Mercer D, Robinson E. Stomach. In: Townsend C, Beauchamp R, Evers B, Mattox K, editors. Sabiston textbook of surgery. Philadelphia: Saunders Elsevier; 2008.
46. Blair V, Parry S. Familial gastric cancer. In: Clark S, editor. A guide to cancer genetics in clinical practice. Shrewsbury, UK: TFM Publishing; 2008.
47. Shaw D, Blair V, Framp A, Harawira P, McLeod M, Guilford P, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut 2005;54:461-8.
48. Francis WP, Rodrigues DM, Perez NE, Lonardo F, Weaver D, Webber JD. Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. JSLS 2007;11:142-7.
49. Mayrbaeurl B, Keller G, Schauer W, Burgstaller S, Czompo M, Hoebling 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;22:306-10.
50. Everett SM, Axon AT. Early gastric cancer in Europe. Gut 1997;41:142-50.
51. Barr H, Greenall M. Carcinoma of the stomach. In: Morris PJ, Wood WC, editors. Oxford Textbook of Surgery. Oxford: Oxford University Press; 2000.
52. Kim J P, Kim SC, Yang HK. Prognostic significance of signet ring cell carcinoma of the stomach. Surg Oncol 1994;3:221-7.
53. Hyung WJ, Noh SH, Lee JH, Huh JJ, Lah KH, Choi SH, et al. Early gastric carcinoma with signet ring cell histology. Cancer 2002;94:78-83.
54. Otsuji E, Yamaguchi T, Sawai K, Takahashi T. Characterization of signet ring cell carcinoma of the stomach. J Surg Oncol 1998;67:216-20.
55. Maehara Y, Sakaguchi Y, Moriguchi S, Orita H, Korenaga D, Kohnoe S, et al. Signet ring cell carcinoma of the stomach. Cancer 1992;69:1645-50.
56. Bulow S, Bjork J, Christensen IJ, Fausa O, Jarvinen H, Moesgaard F, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004;53:381-6. (Pubitemid 38241334)
57. Dumont N, Wilson MB, Crawford YG, Reynolds PA, Sigaroudinia M, Tlsty TD. Sustained induction of epithelial to mesenchymal transition activates DNA methylation of genes silenced in basal-like breast cancers. Proc Natl Acad Sci U S A 2008;105:14867-72.
58. Yoon K, Ku J, Yang H, Kim W, Park S, Park J. Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J Hum Genet 1999;44:177-80. (Pubitemid 29219903)
59. Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C, et al. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol 2008;216:295-306.
60. Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, et al. Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002;19:510-7.
61. Bacani JT, Soares M, Zwingerman R, di Nicola N, Senz J, Riddell R, et al. CDH1/E-cadherin germline mutations in early-onset gastric cancer. J Med Genet 2006;43:867-72.
62. Jiang Y, Wan YL, Wang ZJ, Zhao B, Zhu J, Huang YT. Germline E-cadherin gene mutation screening in familial gastric cancer kindreds (in Chinese). Zhonghua Wai Ke Za Zhi (Chinese Journal of Surgery) 2004;42:914-7.
63. Richards FM, McKee SA, Rajpar MH, Cole TRP, Evans DGR, Jankowski JA, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999;8:607-10.
64. Humar B, Toro T, Graziano F, Muller H, Dobbie Z, Kwang-Yang H, et al. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum Mutat 2002;19:518-25.
65. Rodriguez-Sanjuan JC, Fontalba A, Mayorga M, Bordin MC, Hyland SJ, Trugeda S, et al. A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. Eur J Surg Oncol 2006;32:1110-3.
66. Shinmura K, Kohno T, Takahashi M, Sasaki A, Ochiai A, Guilford P, et al. Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. Carcinogenesis 1999;20:1127-31.
67. Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, et al. Germline mutations of the E-cadherin (CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. J Med Genet 2004;41: e89.
68. Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, et al. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 1998;58:4086-9.
69. Dussaulx-Garin L, Blayau M, Pagenault M, Le Berre-Heresbach N, Raoul JL, Campion JP, et al. A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination. Eur J Gastroenterol Hepatol 2001;13:711-5.
70. Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, 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.
71. Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 2007;44:726-31.
72. Van Domselaar F, Correa D, Vaccaro C, Redal M, Van Domselaar R, Huntsman D, et al. Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene (in Spanish). Acta Gastroenterol Latinoam 2007;37:158-63.
73. Mateus AR, Simoes-Correia J, Figueiredo J, Heindl S, Alves CC, Suriano G, et al. E-cadherin mutations and cell motility: a genotype-phenotype correlation. Exp Cell Res 2009;315:1393-402.
74. Simoes-Correia J, Figueiredo J, Oliveira C, van Hengel J, Seruca R, van Roy F, et al. Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer. Hum Mol Genet 2008;17:3566-76.
75. Ghaffari SR, Dastan J, Rafati M, Sabokbar T. Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer. Hum Genet 2009;125:337.
76. Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Berardi A, et al. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol 2007;33:448-51.
77. Caron O, Schielke A, Svrcek M, Flejou JF, Garzon J, Olschwang S, et al. Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family. Am J Gastroenterol 2008;103:2160-1.
78. Wang Y, Song JP, Ikeda M, Shinmura K, Yokota J, Sugimura H. Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH1) in Japanese familial gastric cancer. Jpn J Clin Oncol 2003;33:17-20.
79. Yabuta T, Shinmura K, Tani M, Yamaguchi S, Yoshimura K, Katai H, et al. E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int J Cancer 2002;101:434-41.