The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC

European Journal of Human Genetics

Volumn 21, Issue 3, 2013, Pages 301-309

  Figueiredo, Joana ^a,b   Söderberg, Ola ^c   Simões Correia, Joana ^a,d   Grannas, Karin ^c   Suriano, Gianpaolo ^a   Seruca, Raquel ^a,b  

^a UNIVERSITY OF PORTO   (Portugal)

^b University of Porto   (Portugal)

^c UPPSALA UNIVERSITY   (Sweden)

^d UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

CDH1 mutations; diagnostic method; E cadherin; E cadherin binding partners; E cadherin trafficking; HDGC

Indexed keywords

BETA CATENIN; PROTEIN P120; UVOMORULIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL MEMBRANE; CELL MIGRATION; CELLULAR DISTRIBUTION; CYTOPLASM; ENDOCYTOSIS; EXOCYTOSIS; FAMILIAL CANCER; FLOW CYTOMETRY; GENETIC COUNSELING; GERM LINE; HEREDITARY DIFFUSE GASTRIC CANCER; IN VITRO STUDY; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; QUANTITATIVE ANALYSIS; REPRODUCIBILITY; STOMACH CANCER;

ANIMALS; BETA CATENIN; BINDING SITES; CADHERINS; CATENINS; CHO CELLS; CRICETINAE; CYTOPLASM; EXOCYTOSIS; HUMANS; MOLECULAR BIOLOGY; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); STOMACH NEOPLASMS; UBIQUITIN-PROTEIN LIGASES;

EID: 84874105136     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.159     Document Type: Article

References (50)

1. 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.
2. 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: 249-255.
3. Oliveira C, Seruca R, Carneiro F: Hereditary gastric cancer. Best Pract Res Clin Gastroenterol 2009; 23: 147-157.
4. 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: 337-342.
5. Brooks-Wilson AR, Kaurah P, Suriano G 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: 508-517.
6. Schrader KA, Masciari S, Boyd N et al: Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 2008; 7: 73-82.
7. Guilford P, Hopkins J, Harraway J et al: E-cadherin germline mutations in familial gastric cancer. Nature 1998; 392: 402-405.
8. Corso G, Marrelli D, Pascale V, Vindigni C, Roviello F: Frequency of CDH1 germline mutations in gastric carcinoma coming from high-and low-risk areas: metanalysis and systematic review of the literature. BMC cancer 2012; 12: 8.
9. Karam R, Carvalho J, Bruno I et al: The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. Oncogene 2008; 27: 4255-4260.
10. Fitzgerald RC, Caldas C: Clinical implications of E-cadherin associated hereditary diffuse gastric cancer. Gut 2004; 53: 775-778.
11. Carneiro F, Oliveira C, Suriano G, Seruca R: Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol 2008; 61: 25-30.
12. 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: 575-582.
13. Suriano G, Seixas S, Rocha J, Seruca R: A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med 2006; 84: 1023-1031.
14. van Roy F, Berx G: The cell-cell adhesion molecule E-cadherin. Cell Mol Life Sci 2008; 65: 3756-3788.
15. Suriano G, Mulholland D, de Wever O et al: The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell-cell adhesion and to suppress invasion. Oncogene 2003; 22: 5716-5719.
16. Keller G, Vogelsang H, Becker I 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.
17. Suriano G, Yew S, Ferreira P 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: 5401-5409.
18. Kaurah P, MacMillan A, Boyd N et al: Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297: 2360-2372.
19. More H, Humar B, Weber W et al: Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 2007; 28: 203.
20. Corso G, Roviello F, Paredes J et al: Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management. Eur J Surg Oncol 2007; 33: 1061-1067.
21. Simoes-Correia J, Figueiredo J, Oliveira C et al: Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer. Hum Mol Genet 2008; 17: 3566-3576.
22. Kluijt I, Siemerink EJ, Ausems MG et al: CDH1-related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling. Int J Cancer 2012; 131: 367-376.
23. Bryant DM, Stow JL: The ins and outs of E-cadherin trafficking. Trends Cell Biol 2004; 14: 427-434.
24. Delva E, Kowalczyk AP: Regulation of cadherin trafficking. Traffic 2009; 10: 259-267.
25. Yap AS, Crampton MS, Hardin J: Making and breaking contacts: the cellular biology of cadherin regulation. Curr Opin Cell Biol 2007; 19: 508-514.
26. D'Souza-Schorey C: Disassembling adherens junctions: breaking up is hard to do. Trends Cell Biol 2005; 15: 19-26.
27. Chen YT, Stewart DB, Nelson WJ: Coupling assembly of the E-cadherin/beta-catenin complex to efficient endoplasmic reticulum exit and basal-lateral membrane targeting of E-cadherin in polarized MDCK cells. J Cell Biol 1999; 144: 687-699.
28. Ling K, Bairstow SF, Carbonara C, Turbin DA, Huntsman DG, Anderson RA: Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin. J Cell Biol, 2007; 176: 343-353.
29. Davis MA, Ireton RC, Reynolds AB: A core function for p120-catenin in cadherin turnover. J Cell Biol 2003; 163: 525-534.
30. Xiao K, Allison DF, Buckley KM et al: Cellular levels of p120 catenin function as a set point for cadherin expression levels in microvascular endothelial cells. J Cell Biol 2003; 163: 535-545.
31. Ireton RC, Davis MA, van Hengel J et al: A novel role for p120 catenin in E-cadherin function. J Cell Biol 2002; 159: 465-476.
32. Xiao K, Garner J, Buckley KM et al: p120-Catenin regulates clathrin-dependent endocytosis of VE-cadherin. Mol Biol Cell 2005; 16: 5141-5151.
33. Fujita Y, Krause G, Scheffner M et al: Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. Nat Cell Biol 2002; 4: 222-231.
34. Oliveira C, Bordin MC, Grehan N et al: Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002; 19: 510-517.
35. Zhang Y, Liu X, Fan Y et al: Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China. Int J Cancer 2006; 119: 2592-2596.
36. Suriano G, Oliveira MJ, Huntsman D et al: 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 2003; 12: 3007-3016.
37. Oliveira C, Ferreira P, Nabais S 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: 1897-1903.
38. Yabuta T, Shinmura K, Tani M et al: E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int J Cancer 2002; 101: 434-441.
39. Soderberg O, Gullberg M, Jarvius M et al: Direct observation of individual endogenous protein complexes in situ by proximity ligation. Nat Methods 2006; 3: 995-1000.
40. Weibrecht I, Leuchowius KJ, Clausson CM et al: Proximity ligation assays: a recent addition to the proteomics toolbox. Expert Rev Proteomics 2010; 7: 401-409.
41. Wang J, Wilkinson MF: Site-directed mutagenesis of large (13-kb) plasmids in a single-PCR procedure. Biotechniques 2000; 29: 976-978.
42. Allalou A, Wahlby C: BlobFinder, a tool for fluorescence microscopy image cytometry. Comp Methods Prog Biomed 2009; 94: 58-65.
43. Mosesson Y, Mills GB, Yarden Y: Derailed endocytosis: an emerging feature of cancer. Nat Rev Cancer 2008; 8: 835-850.
44. Xiao K, Oas RG, Chiasson CM, Kowalczyk AP: Role of p120-catenin in cadherin trafficking. Biochim Biophys Acta 2007; 1773: 8-16.
45. Aberle H, Schwartz H, Kemler R: Cadherin-catenin complex: protein interactions and their implications for cadherin function. J Cell Biochem 1996; 61: 514-523.
46. Okamoto R, Irie K, Yamada A, Katata T, Fukuhara A, Takai Y: Recruitment of E-cadherin associated with alpha-and beta-catenins and p120ctn to the nectin-based cell-cell adhesion sites by the action of 12-O- tetradecanoylphorbol-13-acetate in MDCK cells. Genes Cells 2005; 10: 435-445.
47. Figueiredo J, Simoes-Correia J, Soderberg O, Suriano G, Seruca R: ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones. PLoS One 2011; 6: e23188.
48. Bajpai S, Correia J, Feng Y et al: Alpha-Catenin mediates initial E-cadherindependent cell-cell recognition and subsequent bond strengthening. Proc Natl Acad Sci USA 2008; 105: 18331-18336.
49. Simoes-Correia J, Figueiredo J, Lopes R et al: E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer. PLoS One 2012; 7: e33783.
50. Mateus AR, Simoes-Correia J, Figueiredo J et al: E-cadherin mutations and cell motility: a genotype-phenotype correlation. Exp Cell Res 2009; 315: 1393-1402.