Hereditary diffuse gastric cancer: Diagnosis and management

Clinical Gastroenterology and Hepatology

Volumn 4, Issue 3, 2006, Pages 262-275

  Blair, Vanessa ^a   Martin, Iain ^a   Shaw, David ^c   Winship, Ingrid ^d   Kerr, Dale ^d   Arnold, Julie ^d   Harawira, Pauline ^e   McLeod, Maybelle ^e   Parry, Susan ^a,b   Charlton, Amanda ^a   Findlay, Michael ^a   Cox, Brian ^f   Humar, Bostjan ^f   More, Helen ^f   Guilford, Parry ^f  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b MIDDLEMORE HOSPITAL   (New Zealand)

^c TAURANGA HOSPITAL   (New Zealand)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

^e Kimihauora Health Centre   (New Zealand)

^f UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

BREAST CARCINOMA; CANCER EPIDEMIOLOGY; CANCER INVASION; CANCER RISK; CANCER SIZE; CANCER STAGING; CANCER SURVIVAL; CONSENSUS DEVELOPMENT; DELETION MUTANT; DISEASE ASSOCIATION; FAMILIAL CANCER; GASTRECTOMY; GENETIC ANALYSIS; GENETIC SCREENING; HERITABILITY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; LIFESTYLE; MISSENSE MUTATION; NONSENSE MUTATION; PATIENT MONITORING; PENETRANCE; PRACTICE GUIDELINE; PROGNOSIS; REVIEW; RISK ASSESSMENT; ROUX Y ANASTOMOSIS; STOMACH CARCINOMA; SURVIVAL RATE; TOTAL STOMACH RESECTION;

CADHERINS; CARCINOMA; DECISION TREES; GERM-LINE MUTATION; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; STOMACH NEOPLASMS;

EID: 33644786804     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cgh.2005.12.003     Document Type: Review

References (81)

1. P. Guilford, J. Hopkins, J. Harraway E-cadherin germline mutations in familial gastric cancer Nature 392 1998 402 405
2. S.A. Gayther, K.L. Gorringe, S.J. Ramus Identification of germ-line E-cadherin mutations in gastric cancer families of European origin Cancer Res 58 1998 4086 4089
3. F.M. Richards, S.A. McKee, M.H. Rajpar Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer Hum Mol Genet 8 1999 607 610
4. P. Guilford, J. Hopkins, W. Grady E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer Hum Mutat 14 1999 249 255
5. C. Caldas, F. Carneiro, H.T. Lynch Familial gastric cancer overview and guidelines for management J Med Genet 36 1999 873 880
6. G. Keller, H. Vogelsang, I. Becker Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation Am J Pathol 155 1999 337 342
7. K. Shinmura, T. Kohno, M. Takahashi Familial gastric cancer clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations Carcinogenesis 20 1999 1127 1131
8. K.A. Yoon, J.L. Ku, H.K. Yang Germline mutations of E-cadherin gene in Korean familial gastric cancer patients J Hum Genet 44 1999 177 180
9. L. Dussaulx-Garin, M. Blayau, M. Pagenault A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination Eur J Gastroenterol Hepatol 13 2001 711 715
10. J.J. Ascano, H. Frierson, C.A. Moskaluk Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer Mod Pathol 14 2001 943 949
11. B. Humar, T.T. Toro, F. Graziano Novel Germline CDH-1 mutations in hereditary diffuse gastric cancer families Hum Mutat 19 2002 518 525
12. C. Oliveira, M.C. Bordin, N. Grehan Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred Hum Mutat 19 2002 510 517
13. T. Yabuta, K. Shinmura, M. Tani E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer Int J Cancer 101 2002 434 441
14. G. Suriano, C. Oliveira, P. Ferreira Identification of CDH-1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands Hum Mol Genet 12 2003 575 582
15. A.R. Brooks-Wilson, P. Kaurah, G. Suriano Germline E-cadherin mutations in hereditary diffuse gastric cancer assessment of 42 new families and review of genetic screening criteria J Med Genet 41 2004 508 517
16. G. Keller, H. Vogelsang, I. Becker 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 41 2004 e89
17. Y. Wang, J.-P. Song, M. Ikeda Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH-1) in Japanese familial gastric cancer Jpn J Clin Oncol 33 2003 17 20
18. Y. Jiang, Y. Wan, Z. Wang [Germline E-cadherin gene mutation screening in familial gastric cancer kindreds] Zhonghua Wai Ke Za Zhi 42 2004 914 917
19. H.T. Lynch, W. Grady, J.F. Lynch E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma Cancer Genet Cytogenet 122 2000 1 6
20. P. Pharoah, P. Guilford, C. Caldas Consortium TIGCL Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families Gastroenterology 121 2001 1348 1353
21. F.R. Lewis, J.D. Mellinger, A. Hayashi Prophylactic total gastrectomy for familial cancer Surgery 130 2001 612 619
22. Y.S. Chun, N.M. Lindor, T.C. Smyrk Germline E-cadherin mutations is prophylactic gastrectomy indicated? Cancer 92 2001 181 187
23. R.C. Fitzgerald, C. Caldas Clinical implications of E-cadherin associated hereditary diffuse gastric cancer Gut 53 2004 775 778
24. D.G. Huntsman, F. Carneiro, F.R. Lewis Early gastric cancer in young asymptomatic carriers of germline E-cadherin mutations N Engl J Med 344 2001 1904 1909
25. A. Charlton, V. Blair, D. Shaw Hereditary diffuse gastric cancer predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone Gut 53 2004 814 820
26. F. Carneiro, D.G. Huntsman, T.C. Smyrk Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening J Pathol 203 2004 681 687
27. D. Shaw, V. Blair, A. Framp Chromoendoscopic surveillance in hereditary diffuse gastric cancer an alternative to prophylactic gastrectomy? Gut 54 2005 461 468
28. E. Jones Familial gastric cancer N Z Med J 63 1964 287 296
29. G. Suriano, D. Mulholland, O. De Wever The intracellular E-cadherin germline mutation V832M lacks the ability to mediate cell-cell adhesion and to suppress invasion Oncogene 22 2003 5716 5719
30. G. Suriano, M.J. Oliveira, D. Huntsman 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 2003 3007 3016
31. J.G. Park, H.K. Yang, W.H. Kim Report on the first meeting of the international collaborative group on hereditary gastric cancer J Natl Cancer Inst 92 2000 1781 1782
32. C. La Vecchia, E. Negri, S. Franceschi Family history and the risk of stomach and colorectal cancer Cancer 70 1992 50 55
33. G. Zanghieri, C. Di Gregorio, C. Sacchetti Familial occurrence of gastric cancer in the 2-year experience of a population-based registry Cancer 66 1990 2047 2051
34. I. Kjartansson, B. Jonsson Eldon, S. Arinbjarnarson Genetic epidemiologic aspects of gastric cancer in Iceland J Am Coll Surg 195 2002 181 187
35. J. Lehtola Family study of gastric carcinoma; with special reference to histological types Scand J Gastroenterol 13 1978 1 54
36. B. Humar, F. Graziano, S. Cascinu Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer Oncogene 21 2002 8192 8195
37. M.D. Crabtree, I.P.M. Tomlinson, S.V. Hodgson Explaining variation in familial adenomatous polyposis relationship between genotype and phenotype and evidence for modifier genes Gut 51 2002 420 423
38. P. Lauren The two histological main types of gastric carcinoma diffuse and so-called intestinal-type carcinoma Acta Pathol Microbiol Scand 64 1965 31 49
39. A. Dunbier, P.J. Guildford Hereditary diffuse gastric cancer Adv Cancer Res 83 2001 55 65
40. M.J. Greenall, W.C. Wood Cancer of the breast P.J. Morris W.C. Wood 2nd ed. Oxford textbook of surgery Volume 2 2000 Oxford University Press Oxford 1191-1124
41. G. Berx, F. Van Roy The E-cadherin/catenin complex an important gatekeeper in breast cancer tumorigenesis and malignant progression Breast Cancer Res 3 2001 289 293
42. G. Berx, A. Cleton-Jansen, K. Strumane E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain Oncogene 13 1996 1919 1925
43. J. Chan, C. Wong Loss of E-cadherin is the fundamental defect in diffuse-type gastric cancer and infiltrating lobular carcinoma of the breast Adv Anat Pathol 8 2001 165 172
44. B. Ooi, Y. Ho, K. Eu Primary colorectal signet-ring cell carcinoma in Singapore ANZ J Surg 71 2001 703 706
45. P. Jensen, B. Telegan, R. Lavker E-cadherin and P-cadherin have partially redundant roles in human epidermal stratification Cell Tissue Res 288 1997 307 316
46. L. Sobin, C. Wittekind TNM classification of malignant tumours 6th ed. 2002 Wiley New York
47. C. Wittekind, F.L. Greene, D.E. Henson TNM supplement a commentary on uniform use 3rd ed. 2003 Wiley New York
48. H. Sugihara, T. Hattori, M. Fukuda Cell proliferation and differentiation in intramucosal and advanced signet ring cell carcinomas of the human stomach Virchows Arch 411 1987 117 127
49. S. Hansen, K. Melby, S. Aase Helicobacter pylori infection and risk of cardia cancer and non-cardia gastric cancer. A nested case-control study Scand J Gastroenterol 34 1999 353 360
50. M. Takeichi Cadherin cell adhesion receptors as a morphological regulator Science 251 1991 1451 1455
51. A.K. Perl, P. Wilgenbus, U. Dahl A causal role for E-cadherin in the transition from adenoma to carcinoma Nature 392 1998 190 193
52. H. Tsukuma, A. Oshima, H. Narahara Natural history of early gastric cancer a non-concurrent long term followup study Gut 47 2000 618 621
53. Statement of American Society of Clinical Oncology genetic testing for cancer susceptibility J Clin Oncol 14 1996 1730 1736
54. H.J. Jarvinen Genetic testing for polyposis practical and ethical aspects Gut 52 2003 ii19 ii22
55. A. Clarke The genetic testing of children. Working party of the Clinical Genetics Society (UK) J Med Genet 31 1994 785 797
56. S. Robertson, J. Savulescu Is there a favour of predictive genetic testing in young children? Bioethics 15 2001 26 49
57. S. Michie, M. Bobrow, T. Marteau Predictive genetic testing in children and adults a study of emotional impact J Med Genet 38 2001 519 526
58. A.-M. Codori, K.L. Zawacki, G.M. Petersen Genetic testing for hereditary colorectal cancer in children long-term psychological effects Am J Med Genet 116A 2003 117 128
59. A. McConkie-Rosell, G.A. Spiridigliozzi Family Matters a conceptual framework for genetic testing in children J Genet Counseling 13 2004 9 29
60. S. Michie, V. McDonald, M. Bobrow Parents' responses to predictive genetic testing in their children report of a single case study J Med Genet 33 1996 313 318
61. S. Michie Reply parents' responses to predictive genetic testing in their children J Med Genet 34 1997 174 175
62. A. Clarke Parents' responses to predictive genetic testing in their children J Med Genet 34 1997 174 175
63. T. Lehnert, K. Buhl Techniques of reconstruction after total gastrectomy for cancer Br J Surg 91 2004 528 539
64. B. Liedman Symptoms after total gastrectomy on food intake, body composition, bone metabolism and quality of life in gastric cancer patients - is reconstruction of a reservoir worthwhile? Nutrition 15 1999 677 682
65. J. Penfold Growth and its abnormalities M.J. Robinson D.M. Roberton Practical paediatrics 3rd ed. 1994 Churchill Livingstone Melbourne, Australia 507 519
66. K.O. Olsen, S. Juul, S. Bulow Female fecundity before and after operation for familial adenomatous polyposis Br J Surg 90 2003 227 231
67. M. Tatsuta, S. Okuda, H. Tamura Endoscopic diagnosis of early gastric cancer by the endoscopic Congo red-methylene blue test Cancer 50 1982 2956 2960
68. M. Kriege, C. Brekelmans, C. Boetes Group MRISS Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition N Engl J Med 351 2004 427 437
69. L. Liberman Breast cancer screening with MRI - what are the data for patients at high risk N Engl J Med 351 2004 497 500
70. M. Le Gal, L. Ollivier, B. Asselain Mammographic features of 455 invasive lobular carcinomas Radiology 185 1992 705 708
71. R.S. Butler, L.A. Venta, E.L. Wiley Sonographic evaluation of infiltrating lobular carcinoma AJR Am J Roentgenol 172 1999 325 330
72. J.R. Kelley, J.M. Duggan Gastric cancer epidemiology and risk factors J Clin Epidemiol 56 2003 1 9
73. P. McCulloch, M. Nita, H. Kazi Extended versus limited lymph nodes dissection technique for adenocarcinoma of the stomach Cochrane Database Systematic Reviews 4 2004 CD001964
74. S. Everett, A. Axon Early gastric cancer in Europe Gut 41 1997 142 150
75. H. Barr, M. Greenall Carcinoma of the stomach P.J. Morris W.C. Wood Oxford textbook of surgery Volume 2 2000 Oxford University Press Oxford, UK 1313 1327
76. J. Grabiec, D. Owen Carcinoma of the stomach in young persons Cancer 56 1984 388 396
77. J.P. Kim, S.C. Kim, H.K. Yang Prognostic significance of signet ring cell carcinoma of the stomach Surg Oncol 3 1994 221 227
78. Y. Maehara, Y. Sakaguchi, S. Moriguchi Signet ring cell carcinoma of the stomach Cancer 69 1991 1645 1650
79. E. Otsuji, T. Yamaguchi, K. Sawai Characterization of signet ring cell carcinoma of the stomach J Surg Oncol 67 1998 216 220
80. W.J. Hyung, S.H. Noh, J.H. Lee Early gastric carcinoma with signet ring cell histology Cancer 94 2002 78 83
81. S. Bulow, J. Bjork, I.J. Christensen Group DS Duodenal adenomatosis in familial adenomatous polyposis Gut 53 2004 381 386