E. Strong (ed.). Gastric cancer. Principles and practice. Springer (2015)

  1. Sokoloff B. Predisposition to cancer in the Bonaparte family. Am J Surg. 1938;40(3):673–8.
  2. Lugli A, Zlobec I, Singer G, Kopp Lugli A, Terracciano LM, Genta RM. Napoleon Bonaparte’s gastric cancer: a clinicopathologic approach to staging, pathogenesis, and etiology. Nat Clin Pract Gastroenterol Hepatol. 2007;4(1):52–7. PubMed PMID: 17203089.
  3. Bevan S, Houlston RS. Genetic predisposition to gastric cancer. QJM. 1999;92(1):5–10. PubMed PMID:10209666.
  4. La Vecchia C, Negri E, Franceschi S, Gentile A. Family history and the risk of stomach and colorectal cancer. Cancer. 1992;70(1):50–5. PubMed PMID:1606546.
  5. Varley JM, McGown G, Thorncroft M, Tricker KJ, Teare MD, Santibanez-Koref MF, et al. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet. 1995;32(12):942–5. PubMed PMID: 8825920. Pubmed Central PMCID: 1051773.
  6. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110(4):1020–7. PubMed PMID: 8612988.
  7. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47(7):436–44. PubMed PMID:20591882. Pubmed Central PMCID: 2991043.
  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(6):873–9. PubMed PMID: 17522512. Pubmed Central PMCID: 1876967.
  9. 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. PubMed PMID: 14320675. Epub 1965/01/01. eng.
  10. Blair V, Martin I, Shaw D, Winship I, Kerr D, Arnold J, et al. Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol. (The official clinical practice journal of the American Gastroenterological Association). 2006;4(3):262–75. PubMed PMID: 16527687.
  11. Stone J, Bevan S, Cunningham D, Hill A, Rahman N, Peto J, et al. Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer. Br J cancer. 1999;79(11–12):1935–7. PubMed PMID:10206317. Pubmed Central PMCID: 2362779.
  12. 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(6674):402–5. PubMed PMID: 9537325. Epub 1998/04/16. eng.
  13. Jones EG. Familial gastric cancer. N Z Med J. 1964;63:287–96.
  14. 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(12):873–80. PubMed PMID: 10593993. Pubmed Central PMCID: 1734270.
  15. Guilford PJ, Hopkins JB, Grady WM, Markowitz SD, Willis J, Lynch H, et al. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat. 1999;14(3):249–55. PubMed PMID: 10477433.
  16. 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(2):337–42. PubMed PMID: 10433926. Pubmed Central PMCID: 1866861.
  17. Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, et al. Identification of germline E-cadherin mutations in gastric cancer families of European origin. Cancer Res. 1998;58(18):4086–9. PubMed PMID: 9751616.
  18. Pharoah PD, Guilford P, Caldas C, International Gastric Cancer Linkage C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121(6):1348–53. PubMed PMID: 11729114.
  19. Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet. 1999;8(4):607–10. PubMed PMID: 10072428.
  20. 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(7):508–17. PubMed PMID: 15235021. Pubmed Central PMCID: 1735838.
  21. 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(5):510–7. PubMed PMID: 11968083.
  22. 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(5):518–25. PubMed PMID: 11968084.
  23. 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(6):711–5. PubMed PMID: 11434599.
  24. 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 J Am Med Assoc. 2007;297(21):2360–72. PubMed PMID: 17545690.
  25. Takeichi M. Cadherin cell adhesion receptors as a morphogenetic regulator. Science. 1991;251(5000):1451–5. PubMed PMID: 2006419.
  26. Grunwald GB. The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules. Curr Opin Cell Biol. 1993;5(5):797–805. PubMed PMID: 8240823.
  27. Gumbiner BM. Cell adhesion: the molecular basis of tissue architecture and morphogenesis. Cell. 1996;84(3):345–57. PubMed PMID: 8608588.
  28. Berx G, Staes K, van Hengel J, Molemans F, Bussemakers MJ, van Bokhoven A, et al. Cloning and characterization of the human invasion suppressor gene E-cadherin (CDH1). Genomics. 1995;26(2):281–9. PubMed PMID: 7601454.
  29. Becker KF, Atkinson MJ, Reich U, Becker I, Nekarda H, Siewert JR, et al. E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res. 1994;54(14):3845–52. PubMed PMID: 8033105.
  30. Muta H, Noguchi M, Kanai Y, Ochiai A, Nawata H, Hirohashi S. E-cadherin gene mutations in signet ring cell carcinoma of the stomach. Jpn J Cancer Res. 1996;87(8):843–8. PubMed PMID: 8797891.
  31. Tamura G, Sakata K, Nishizuka S, Maesawa C, Suzuki Y, Iwaya T, et al. Inactivation of the E-cadherin gene in primary gastric carcinomas and gastric carcinoma cell lines. Jpn J Cancer Res. 1996;87(11):1153–9. PubMed PMID: 9045944.
  32. Berx G, Becker KF, Hofler H, van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat. 1998;12(4):226–37. PubMed PMID: 9744472.
  33. Ascano JJ, Frierson H, Jr., Moskaluk CA, Harper JC, Roviello F, Jackson CE, et al. Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer. Mod Pathol. 2001;14(10):942–9. PubMed PMID: 11598162.
  34. Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995;14(24):6107–15. PubMed PMID: 8557030. Pubmed Central PMCID: 394735.
  35. Umbas R, Schalken JA, Aalders TW, Carter BS, Karthaus HF, Schaafsma HE, et al. Expression of the cellular adhesion molecule E-cadherin is reduced or absent in high-grade prostate cancer. Cancer Res. 1992;52(18):5104–9. PubMed PMID: 1516067.
  36. Risinger JI, Berchuck A, Kohler MF, Boyd J. Mutations of the E-cadherin gene in human gynecologic cancers. Nat Genet. 1994;7(1):98–102. PubMed PMID: 8075649.
  37. 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(9):1545–55. PubMed PMID: 19168852. Pubmed Central PMCID: 2667284.
  38. Yamada H, Shinmura K, Ito H, Kasami M, Sasaki N, Shima H, et al. Germline alterations in the CDH1 gene in familial gastric cancer in the Japanese population. Cancer Sci. 2011;102(10):1782–8. PubMed PMID: 21777349.
  39. Yamada M, Fukagawa T, Nakajima T, Asada K, Sekine S, Yamashita S, et al. Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1. Gastric Cancer. (Official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association). 2013 Sept 15. PubMed PMID: 24037103.
  40. Corso G, Marrelli D, Pascale V, Vindigni C, Roviello F. Frequency of CDH1 germline mutations in gastric carcinoma coming from highand low-risk areas: metanalysis and systematic review of the literature. BMC Cancer. 2012;12:8. PubMed PMID: 22225527. Pubmed Central PMCID: 3305498.
  41. 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(2):203. PubMed PMID: 17221870.
  42. 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(3):295–306. PubMed PMID: 18788075.
  43. Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Nogues C, et al. CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet. 2013;50(7):486–9. PubMed PMID: 23709761.
  44. Guilford P, Humar B, Blair V. Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer. (Official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association). 2010;13(1):1–10. PubMed PMID: 20373070.
  45. 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 Off J Am Assoc Cancer Res. 2005;11(15):5401–9. PubMed PMID: 16061854.
  46. 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(11):867–72. PubMed PMID: 16801346. Pubmed Central PMCID: 2563190.
  47. Jiang Y, Wan YL, Wang ZJ, Zhao B, Zhu J, Huang YT. Germline E-cadherin gene mutation screening in familial gastric cancer kindreds. Zhonghua wai ke za zhi [Chinese journal of surgery]. 2004 Aug 7;42(15):914–7. PubMed PMID: 15363252.
  48. 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(1):73–82. PubMed PMID: 18046629. Pubmed Central PMCID: 2253650.
  49. 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(6):799–809. PubMed PMID: 18391748.
  50. Chen Y, Kingham K, Ford JM, Rosing J, Van Dam J, Jeffrey RB, et al. A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer. Annals Surg Oncol. 2011;18(9):2594–8. PubMed PMID: 21424370.
  51. 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(10):1110–3. PubMed PMID: 16870389.
  52. 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(6):e89. PubMed PMID: 15173255. Pubmed Central PMCID: 1735803.
  53. 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(6):1127–31. PubMed PMID: 10357799.
  54. Shah MA, Salo-Mullen E, Stadler Z, Ruggeri JM, Mirander M, Pristyazhnyuk Y, et al. De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. Clin Genet. 2012;82(3):283–7. PubMed PMID: 21696387.
  55. 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(2):138–42. PubMed PMID: 15831593. Pubmed Central PMCID: 2564630.
  56. 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(5):575–82. PubMed PMID: 12588804.
  57. Oliveira C, Ferreira P, Nabais S, Campos L, Ferreira A, Cirnes L, et al. 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. 2004;40(12):1897–903. PubMed PMID: 15288293.
  58. Suriano G, Seixas S, Rocha J, Seruca R. A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med (Berl). 2006;84(12):1023–31. PubMed PMID: 16924464.
  59. Yoon KA, Ku JL, Yang HK, Kim WH, Park SY, Park JG. Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J Hum Genet. 1999;44(3):177–80. PubMed PMID: 10319582.
  60. Matsukuma KE, Mullins FM, Dietz L, Zehnder JL, Ford JM, Chun NM, et al. Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Hum Pathol. 2010;41(8):1200–3. PubMed PMID: 20624523.
  61. 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.
  62. 2002;98(6):838–43. PubMed PMID: 11948460.
  63. Kim S, Chung JW, Jeong TD, Park YS, Lee JH, Ahn JY, et al. Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients. Fam Cancer. 2013;12(3):503–7. PubMed PMID: 23264079.
  64. 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(22):3566–76. PubMed PMID: 18772194.
  65. Ghaffari SR, Rafati M, Sabokbar T, Dastan J. A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer. Eur J Surg Oncol. 2010;36(6):559–62. PubMed PMID: 20471195.
  66. Kim HC, Wheeler JM, Kim JC, Ilyas M, Beck NE, Kim BS, et al. The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. Gut. 2000;47(2):262–7. PubMed PMID: 10896919. Pubmed Central PMCID: 1728009.
  67. 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(6):814–20. PubMed PMID: 15138207. Pubmed Central PMCID: 1774074.
  68. 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(4):448–51. PubMed PMID: 17126523.
  69. Oliveira C, de Bruin J, Nabais S, Ligtenberg M, Moutinho C, Nagengast FM, et al. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene. 2004;23(12):2236–40. PubMed PMID: 14661064.
  70. Hebbard PC, Macmillan A, Huntsman D, Kaurah P, Carneiro F, Wen X, et al. Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol. 2009;16(7):1890–5. PubMed PMID: 19408054.
  71. 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.
  72. 2008;103(8):2160–1. PubMed PMID: 18796125.
  73. Guilford P, Blair V, More H, Humar B. A short guide to hereditary diffuse gastric cancer. Hered Cancer Clin Pract. 2007;5(4):183–94. PubMed PMID: 19725995. Pubmed Central PMCID: 2736978.
  74. 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(3):306–10. PubMed PMID: 19474748.
  75. Knudson AG, Jr Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 1985;45(4):1437–43. PubMed PMID: 2983882.
  76. Oliveira C, Sousa S, Pinheiro H, Karam R, BordeiraCarrico R, Senz J, et al. Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology. 2009;136(7):2137–48. PubMed PMID: 19269290.
  77. Graff JR, Herman JG, Lapidus RG, Chopra H, Xu R, Jarrard DF, et al. E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res. 1995;55(22):5195–9. PubMed PMID: 7585573.
  78. Tamura G, Yin J, Wang S, Fleisher AS, Zou T, Abraham JM, et al. E-Cadherin gene promoter hypermethylation in primary human gastric carcinomas. J Natl Cancer Inst. 2000;92(7):569–73. PubMed PMID: 10749913.
  79. Grady WM, Willis J, Guilford PJ, Dunbier AK, Toro TT, Lynch H, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet. 2000;26(1):16–7. PubMed PMID: 10973239.
  80. Humar B, Guilford P. Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci. 2009;100(7):1151–7. PubMed PMID: 19432899.
  81. 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(5):2050–6. PubMed PMID: 19223545.
  82. Majewski IJ, Kluijt I, Cats A, Scerri TS, de Jong D, Kluin RJ, et al. An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. J Pathol. 2013;229(4):621–9. PubMed PMID: 23208944.
  83. Koslov ER, Maupin P, Pradhan D, Morrow JS, Rimm DL. Alpha-catenin can form asymmetric homodimeric complexes and/or heterodimeric complexes with β-catenin. J Biol Chem. 1997;272(43):27301–6. PubMed PMID: 9341178.
  84. Rimm DL, Koslov ER, Kebriaei P, Cianci CD, Morrow JS. Alpha 1(E)-catenin is an actin-binding and -bundling protein mediating the attachment of F-actin to the membrane adhesion complex. Proc Natl Acad Sci U S A. 1995;92(19):8813–7. PubMed PMID: 7568023. Pubmed Central PMCID: 41057.
  85. Vasioukhin V, Bauer C, Degenstein L, Wise B, Fuchs E. Hyperproliferation and defects in epithelial polarity upon conditional ablation of α-catenin in skin. Cell. 2001;104(4):605–17. PubMed PMID: 11239416.
  86. Breast Cancer Linkage C. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310–6. PubMed PMID: 10433620.
  87. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst. 2002;94(18):1365–72. PubMed PMID: 12237282.
  88. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149–67. PubMed PMID: 8826936.
  89. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123(2):444–9. PubMed PMID: 18398828. Pubmed Central PMCID: 2627772.
  90. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258-64. Author reply 65. PubMed PMID: 20051941.
  91. Abraham SC, Nobukawa B, Giardiello FM, Hamilton SR, Wu TT. Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol. 2000;157(3):747–54. PubMed PMID:10980114. Pubmed Central PMCID: 1885693.
  92. Lynch HT, Snyder C, Davies JM, Lanspa S, Lynch J, Gatalica Z, et al. FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review. Fam Cancer. 2010;9(4):581–8. PubMed PMID: 20532639. Epub 2010/06/10. eng.
  93. Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol. (The official clinical practice journal of the American Gastroenterological Association). 2008;6(2):180–5. PubMed PMID: 18237868.
  94. Garrean S, Hering J, Saied A, Jani J, Espat NJ. Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg. 2008;74(1):79–83. PubMed PMID:18274437.
  95. Al-Thihli K, Palma L, Marcus V, Cesari M, Kushner YB, Barkun A, et al. A case of Cowden’s syndrome presenting with gastric carcinomas and gastrointestinal polyposis. Nat Clin Pract Gastroenterol Hepatol. 2009;6(3):184–9. PubMed PMID: 19190598.
  96. Hamby LS, Lee EY, Schwartz RW. Parathyroid adenoma and gastric carcinoma as manifestations of Cowden’s disease. Surgery. 1995;118(1):115–7. PubMed PMID: 7604372.
  97. Stadler ZK, Salo-Mullen E, Zhang L, Shia J, Bacares R, Power DG, et al. Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. J Clin Oncol. (official journal of the American Society of Clinical Oncology). 2012;30(25):e229–32. PubMed PMID: 22826269.
  98. Howe JR, Sayed MG, Ahmed AF, Ringold J, LarsenHaidle J, Merg A, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004;41(7):484–91. PubMed PMID: 15235019. Pubmed Central PMCID: 1735829.
  99. Nichols KE, Malkin D, Garber JE, Fraumeni JF, Jr, Li FP. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomark Prev. (A publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology). 2001;10(2):83–7. PubMed PMID: 11219776.
  100. Gonzalez KD, Noltner KA, Buzin CH, Gu D, WenFong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. (Official journal of the American Society of Clinical Oncology). 2009;27(8):1250–6. PubMed PMID: 19204208.
  101. Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-85, e1–10. PubMed PMID: 19732775.
  102. Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer. 2011;129(9):2256–62. PubMed PMID: 21171015. Pubmed Central PMCID: 3291738.
  103. Potter NU, Sarmousakis C, Li FP. Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet. 1983;9(1):61–5. PubMed PMID: 6839307.
  104. Worthley DL, Phillips KD, Wayte N, Schrader KA, Healey S, Kaurah P, et al. Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut. 2012;61(5):774–9. PubMed PMID: 21813476.
  105. Yanaru-Fujisawa R, Nakamura S, Moriyama T, Esaki M, Tsuchigame T, Gushima M, et al. Familial fundic gland polyposis with gastric cancer. Gut. 2012;61(7):1103–4. PubMed PMID: 22027476.
  106. Thiery JP. Epithelial-mesenchymal transitions in tumour progression. Nat Rev Cancer. 2002;2(6):442–54. PubMed PMID: 12189386.
  107. Kalluri R, Weinberg RA. The basics of epithelial-mesenchymal transition. J Clin Invest.
  108. 2009;119(6):1420–8. PubMed PMID: 19487818. Pubmed Central PMCID: 2689101.
  109. Tian X, Liu Z, Niu B, Zhang J, Tan TK, Lee SR, et al. E-cadherin/β-catenin complex and the epithelial barrier. J Biomed Biotechnol. 2011;2011:567305. PubMed PMID: 22007144. Pubmed Central PMCID: 3191826.
  110. Frixen UH, Behrens J, Sachs M, Eberle G, Voss B, Warda A, et al. E-cadherin-mediated cell-cell adhesion prevents invasiveness of human carcinoma cells. J Cell Biol. 1991;113(1):173–85. PubMed PMID: 2007622. Pubmed Central PMCID: 2288921.
  111. Vleminckx K, Vakaet L Jr, Mareel M, Fiers W, van Roy F. Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role. Cell. 1991;66(1):107–19. PubMed PMID: 2070412.
  112. Riethmacher D, Brinkmann V, Birchmeier C. A targeted mutation in the mouse E-cadherin gene results in defective preimplantation development. Proc Natl Acad Sci USA. 1995;92(3):855–9. PubMed PMID: 7846066. Pubmed Central PMCID: 42719.
  113. Parsonnet J, Friedman GD, Vandersteen DP, Chang Y, Vogelman JH, Orentreich N, et al. Helicobacter pylori infection and the risk of gastric carcinoma. New Engl J Med. 1991;325(16):1127–31. PubMed PMID: 1891020.
  114. 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(2):681–7. PubMed PMID: 15141383.
  115. 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(1):181–7. PubMed PMID: 11443625.
  116. 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. New Engl J Med. 2001;344(25):1904–9. PubMed PMID: 11419427.
  117. Fitzgerald RC, Caldas C. Clinical implications of Ecadherin associated hereditary diffuse gastric cancer. Gut. 2004;53(6):775–8. PubMed PMID: 15138199. Pubmed Central PMCID: 1774077.
  118. La Vecchia C, Negri E, D’Avanzo B, Franceschi S. Electric refrigerator use and gastric cancer risk. Br J Cancer. 1990;62(1):136–7. PubMed PMID: 2390474. Pubmed Central PMCID: 1971721.
  119. Lee SA, Kang D, Shim KN, Choe JW, Hong WS, Choi H. Effect of diet and Helicobacter pylori infection to the risk of early gastric cancer. J Epidemiol. 2003;13(3):162–8. PubMed PMID: 12749604.
  120. Tsugane S, Sasazuki S. Diet and the risk of gastric cancer: review of epidemiological evidence. Gastric Cancer. (Official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association). 2007;10(2):75–83. PubMed PMID: 17577615.
  121. Park B, Shin A, Park SK, Ko KP, Ma SH, Lee EH, et al. Ecological study for refrigerator use, salt, vegetable, and fruit intakes, and gastric cancer. Cancer Causes Control (CCC). 2011;22(11):1497–502. PubMed PMID: 21805052.
  122. Gonzalez CA, Pera G, Agudo A, Bueno-de-Mesquita HB, Ceroti M, Boeing H, et al. Fruit and vegetable intake and the risk of stomach and oesophagus adenocarcinoma in the European prospective investigation into cancer and nutrition (EPIC-EURGAST). Int J Cancer 2006;118(10):2559–66. PubMed PMID: 16380980.
  123. Huerta JM, Navarro C, Chirlaque MD, Tormo MJ, Steindorf K, Buckland G, et al. Prospective study of physical activity and risk of primary adenocarcinomas of the oesophagus and stomach in the EPIC (European Prospective Investigation into Cancer and nutrition) cohort. Cancer Causes Control (CCC). 2010;21(5):657–69. PubMed PMID: 20052611.
  124. Gonzalez CA, Pera G, Agudo A, Palli D, Krogh V, Vineis P, et al. Smoking and the risk of gastric cancer in the European prospective investigation into cancer and nutrition (EPIC). Int J Cancer. 2003;107(4):629–34. PubMed PMID: 14520702.
  125. Machado JC, Oliveira C, Carvalho R, Soares P, Berx G, Caldas C, et al. E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma. Oncogene. 2001;20(12):1525–8. PubMed PMID: 11313896.
  126. Oliveira C, Moreira H, Seruca R, de Oliveira MC, Carneiro F. Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family. Virchows Arch. 2005;446(2):181–4. PubMed PMID: 15735979.
  127. Oliveira C, Seruca R, Carneiro F. Genetics, pathology, and clinics of familial gastric cancer. Int J Surg Pathol. 2006;14(1):21–33. PubMed PMID: 16501831.
  128. Lynch HT, Grady W, Lynch JF, Tsuchiya KD, Wiesner G, Markowitz SD. E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. Cancer Genet Cytogenet. 2000;122(1):1–6. PubMed PMID: 11104024.
  129. Lynch HT, Silva E, Wirtzfeld D, Hebbard P, Lynch J, Huntsman DG. Hereditary diffuse gastric cancer: prophylactic surgical oncology implications. Surg Clin North Am. 2008;88(4):759–78, vi–vii. PubMed PMID: 18672140. Pubmed Central PMCID: 2561947.
  130. 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(3):286–94. PubMed PMID: 18825658.
  131. 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(4):461–8. PubMed PMID: 15753528. Pubmed Central PMCID: 1774455.
  132. National Toxicology Program. Toxicology and carcinogenesis studies of C.I. pigment red 23 in F344 Rats and B6C3F mice. 1992.
  133. National Toxicology Program. Toxicology and carcinogenesis studies of methylene blue trihydrate in F344/N rats and B6C3F1 mice. 2008.
  134. van Kouwen MC, Drenth JP, Oyen WJ, de Bruin JH, Ligtenberg MJ, Bonenkamp JJ, et al. [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. 2004;10(19):6456–9. PubMed PMID: 15475432.
  135. Koea JB, Karpeh MS, Brennan MF. Gastric cancer in young patients: demographic, clinicopathological, and prognostic factors in 92 patients. Ann Surg Oncol. 2000;7(5):346–51. PubMed PMID: 10864341.
  136. Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simoes-Correia J, et al. CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer. 2012;131(2):367–76. PubMed PMID: 22020549.
  137. Kluijt I, Sijmons RH, Hoogerbrugge N, Plukker JT, de Jong D, van Krieken JH, et al. Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance. Familial Cancer. 2012;11(3):363–9. PubMed PMID: 22388873.
  138. Sano T, Kobori O, Muto T. Lymph node metastasis from early gastric cancer: endoscopic resection of tumour. Br J Surg. 1992;79(3):241–4. PubMed PMID: 1313325.
  139. Kaurah P, Fitzgerald R, Dwerryhouse S, Huntsman DG. Pregnancy after prophylactic total gastrectomy. Fam Cancer. 2010;9(3):331–4. PubMed PMID: 20063069.
  140. Peck DA, Welch JS, Waugh JM, Wilson RB. Pregnancy following gastric resection. Am J Obstet Gynecol. 1964;90:517–20. PubMed PMID: 14217654.
  141. Pisani BJ. Term gestation following total gastrectomy. J Am Geriatr Soc. 1958;6(2):99–102. PubMed PMID: 13502017.
  142. Gaya DR, Stuart RC, Going JJ, Stanley AJ. Hereditary diffuse gastric cancer associated with Ecadherin mutation: penetrance after all. Eur J Gastroenterol Hepatol. 2008;20(12):1249–51. PubMed PMID: 8989144.
  143. Gaya DR, Stuart RC, McKee RF, Going JJ, Davidson R, Stanley AJ. E-cadherin mutation-associated diffuse gastric adenocarcinoma: penetrance and non-penetrance. Eur J Gastroenterol Hepatol. 2005;17(12):1425–8. PubMed PMID: 16292101.
  144. Boetes C, Veltman J, van Die L, Bult P, Wobbes T, Barentsz JO. The role of MRI in invasive lobular carcinoma. Breast Cancer Res Treat. 2004;86(1):31–7. PubMed PMID: 15218359.
  145. Cisco RM, Norton JA. Hereditary diffuse gastric cancer: surgery, surveillance and unanswered questions. Future Oncol. 2008;4(4):553–9. PubMed PMID: 18684065.

[contact-form-7 id=»5168″ title=»Контактная форма 1″]


Добавить комментарий

Войти с помощью: 

Ваш e-mail не будет опубликован. Обязательные поля помечены *