Pathology
germline mutations in congenital tufting enteropathy (MIM.613217)
overexpression in cancers
References
Further evidence for EpCAM as the gene for congenital tufting enteropathy. Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. Am J Med Genet A. 2010 Jan;152A(1):222-4. PMID: 20034091
Al-Mayouf, S. M.; Alswaied, N.; Alkuraya, F. S.; AlMehaidib, A.; Faqih, M. : Tufting enteropahty and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J. Pediat. Gastroent. Nutr. 49: 642-644, 2009. PubMed ID : 19820410
Expression of EpCam and villin in Barrett’s esophagus and in gastric cardia. Anders M, Sarbia M, Grotzinger C, Meining A, Hofler H, Wiedenmann B, Rosch T. Dis Markers. 2008;24(6):287-92. PMID: 18688077
Identification of EpCAM as the gene for congenital tufting enteropathy. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Gastroenterology. 2008 Aug;135(2):429-37. Epub 2008 May 15. PMID: 18572020
Limited suitability of EpCAM for molecular staging of tumor borders in head and neck cancer. Andratschke M, Hagedorn H, Luebbers CW, Schmitt B, Lang S, Zeidler R, Wollenberg B. Anticancer Res. 2006 Jan-Feb;26(1A):153-8. PMID: 16475692
The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. Münz M, Zeidler R, Gires O. Cancer Lett. 2005 Jul 8;225(1):151-7. PMID: 15922867
The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. Münz M, Kieu C, Mack B, Schmitt B, Zeidler R, Gires O. Oncogene. 2004 Jul 29;23(34):5748-58. PMID: 15195135
Prognostic significance of Ep-CAM AND Her-2/neu overexpression in invasive breast cancer. Spizzo G, Obrist P, Ensinger C, Theurl I, Dünser M, Ramoni A, Gunsilius E, Eibl G, Mikuz G, Gastl G. Int J Cancer. 2002 Apr 20;98(6):883-8. PMID: 11948467
The expression of Ep-CAM (17-1A) in squamous cell cancers of the lung. Piyathilake CJ, Frost AR, Weiss H, Manne U, Heimburger DC, Grizzle WE. Hum Pathol. 2000 Apr;31(4):482-7. PMID: 10821496
Ep-Cam levels in prostatic adenocarcinoma and prostatic intraepithelial neoplasia. Poczatek RB, Myers RB, Manne U, Oelschlager DK, Weiss HL, Bostwick DG, Grizzle WE. J Urol. 1999 Oct;162(4):1462-6. PMID: 10492238
Durbin, H.; Rodrigues, N.; Bodmer, W. F. : Further characterization, isolation and identification of the epithelial cell-surface antigen defined by monoclonal antibody AUAI. Int. J. Cancer 45: 562-565, 1990. PubMed ID : #2307544
Goulet, O.; Kedinger, M.; Brousse, N.; Cuenod, B.; Colomb, V.; Patey, N.; de Potter, S.; Mougenot, J.-F.; Canioni, D.; Cerf-Bensussan, N.; Ricour, C. : Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. J. Pediat. 127: 212-219, 1995. PubMed ID : 7636644
Goulet, O. J.; Brousse, N.; Canioni, D.; Walker-Smith, J. A.; Schmitz, J.; Phillips, A. D. : Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J. Pediat. Gastroent. Nutr. 26: 151-161, 1998. PubMed ID : 9481629
Meyaard, L.; van der Vuurst de Vries, A.-R.; de Ruiter, T.; Lanier, L. L.; Phillips, J. H.; Clevers, H. : The epithelial cellular adhesion molecule (Ep-CAM) is a ligand for the leukocyte-associated immunoglobulin-like receptor (LAIR). J. Exp. Med. 194: 107-112, 2001. Note: Retraction: J. Exp. Med.::198: 1129 only, 2003. PubMed ID : 11435477
Perez, M. S.; Walker, L. E. : Isolation and characterization of a cDNA encoding the KS1/4 epithelial carcinoma marker. J. Immun. 142: 3662-3667, 1989. PubMed ID : 2469722
Reifen, R. M.; Cutz, E.; Griffiths, A.-M.; Ngan, B. Y.; Sherman, P. M. : Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J. Pediat. Gastroent. Nutr. 18: 379-385, 1994. PubMed ID : 8057225
Sivagnanam, M.; Mueller, J. L.; Lee, H.; Chen, Z.; Nelson, S. F.; Turner, D.; Zlotkin, S. H.; Pencharz, P. B.; Ngan, B.-Y.; Libiger, O.; Schork, N. J.; Lavine, J. E.; Taylor, S.; Newbury, R. O.; Kolodner, R. D.; Hoffman, H. M. : Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 135: 429-437, 2008. PubMed ID : 18572020
Spurr, N. K.; Durbin, H.; Sheer, D.; Parkar, M.; Bobrow, L.; Bodmer, W. F. : Characterization and chromosomal assignment of a human cell surface antigen defined by the monoclonal antibody AUAI. Int. J. Cancer 38: 631-636, 1986. PubMed ID : 3770992
Strnad, J.; Hamilton, A. E.; Beavers, L. S.; Gamboa, G. C.; Apelgren, L. D.; Taber, L. D.; Sportsman, J. R.; Bumol, T. F.; Sharp, J. D.; Gadski, R. A. :
Molecular cloning and characterization of a human adenocarcinoma/epithelial cell surface antigen complementary DNA. Cancer Res. 49: 314-317, 1989. PubMed ID : 2463074
Szala, S.; Froehlich, M.; Scollon, M.; Kasai, Y.; Steplewski, Z.; Koprowski, H.; Linnenbach, A. J. : Molecular cloning of cDNA for the carcinoma-associated antigen GA733-2. Proc. Nat. Acad. Sci. 87: 3542-3546, 1990. PubMed ID : 2333300