RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

American Journal of Human Genetics

Volumn 90, Issue 2, 2012, Pages 340-346

  Blaydon, Diana C ^a   Etheridge, Sarah L ^a   Risk, Janet M ^b   Hennies, Hans Christian ^c   Gay, Laura J ^a   Carroll, Rebecca ^a   Plagnol, Vincent ^d   McRonald, Fiona E ^b   Stevens, Howard P ^e   Spurr, Nigel K ^f   Bishop, D Timothy ^g   Ellis, Anthony ^h   Jankowski, Janusz ^a,j,k   Field, John K ^b   Leigh, Irene M ⁱ   South, Andrew P ⁱ   Kelsell, David P ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BARNET HOSPITAL   (United Kingdom)

^f ROCHE PRODUCTS LTD   (United Kingdom)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF DUNDEE   (United Kingdom)

^j UNIVERSITY OF OXFORD   (United Kingdom)

^k UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; EPIDERMAL GROWTH FACTOR RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CELL CULTURE; CELL MEMBRANE; CELL MIGRATION; CELL PROLIFERATION; CHROMOSOME; CHROMOSOME 17Q; ESOPHAGUS CANCER; FAMILIAL CANCER; GENE; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HIGH THROUGHPUT SEQUENCING; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REGULATORY MECHANISM; RHBDF2 GENE; SIGNAL TRANSDUCTION; SQUAMOUS CELL CARCINOMA; TYLOSIS;

AMINO ACID SEQUENCE; CARCINOMA, SQUAMOUS CELL; CELL GROWTH PROCESSES; CELL MOVEMENT; CHROMOSOMES, HUMAN, PAIR 17; ESOPHAGEAL NEOPLASMS; EXONS; HUMANS; KERATINOCYTES; KERATODERMA, PALMOPLANTAR, DIFFUSE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTOR, EPIDERMAL GROWTH FACTOR; SEQUENCE ALIGNMENT; SERINE PROTEASES; UNTRANSLATED REGIONS;

EID: 84857058050     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.008     Document Type: Article

References (27)

1. J. Ferlay, H.R. Shin, F. Bray, D. Forman, C. Mathers, and D.M. Parkin Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008 Int. J. Cancer 127 2010 2893 2917
2. A. Ellis, J.K. Field, E.A. Field, P.S. Friedmann, A. Fryer, P. Howard, I.M. Leigh, J. Risk, J.M. Shaw, and J. Whittaker Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family - a review of six generations Eur. J. Cancer B Oral Oncol. 30B 1994 102 112 (Pubitemid 24136729)
3. H.C. Hennies, M. Hagedorn, and A. Reis Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster Genomics 29 1995 537 540
4. H.P. Stevens, D.P. Kelsell, S.P. Bryant, D.T. Bishop, N.K. Spurr, J. Weissenbach, D. Marger, R.S. Marger, and I.M. Leigh Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas Arch. Dermatol. 132 1996 640 651
5. J.M. Risk, E.A. Field, J.K. Field, J. Whittaker, A. Fryer, A. Ellis, J.M. Shaw, P.S. Friedmann, D.T. Bishop, and J. Bodmer Tylosis oesophageal cancer mapped Nat. Genet. 8 1994 319 321
6. E.A. Field, A. Ellis, P.S. Friedmann, I.M. Leigh, and J.K. Field Oral tylosis: A re-appraisal Oral Oncol. 33 1997 55 57
7. D.P. Kelsell, J.M. Risk, I.M. Leigh, H.P. Stevens, A. Ellis, H.C. Hennies, A. Reis, J. Weissenbach, D.T. Bishop, N.K. Spurr, and J.K. Field Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) Hum. Mol. Genet. 5 1996 857 860 (Pubitemid 26171304)
8. J.E. Langan, C.G. Cole, E.J. Huckle, S. Byrne, F.E. McRonald, L. Rowbottom, A. Ellis, J.M. Shaw, I.M. Leigh, and D.P. Kelsell Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: Sequencing does not identify the causative gene Hum. Genet. 114 2004 534 540 (Pubitemid 39010850)
9. J.M. Risk, K.E. Evans, J. Jones, J.E. Langan, L. Rowbottom, F.E. McRonald, H.S. Mills, A. Ellis, J.M. Shaw, and I.M. Leigh Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus Oncogene 21 2002 6395 6402
10. J.M. Risk, C. Ruhrberg, H. Hennies, H.S. Mills, T. Di Colandrea, K.E. Evans, A. Ellis, F.M. Watt, D.T. Bishop, and N.K. Spurr Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): The integration of genetic and physical maps of the TOC region on 17q25 Genomics 59 1999 234 242 (Pubitemid 29365354)
11. G.A. McQuibban, S. Saurya, and M. Freeman Mitochondrial membrane remodelling regulated by a conserved rhomboid protease Nature 423 2003 537 541 (Pubitemid 36648577)
12. S. Urban, J.R. Lee, and M. Freeman Drosophila rhomboid-1 defines a family of putative intramembrane serine proteases Cell 107 2001 173 182 (Pubitemid 33035944)
13. K.S. Dimmer, S. Fritz, F. Fuchs, M. Messerschmitt, N. Weinbach, W. Neupert, and B. Westermann Genetic basis of mitochondrial function and morphology in Saccharomyces cerevisiae Mol. Biol. Cell 13 2002 847 853 (Pubitemid 34250350)
14. M. Freeman, B.E. Kimmel, and G.M. Rubin Identifying targets of the rough homeobox gene of Drosophila: evidence that rhomboid functions in eye development Development 116 1992 335 346
15. M. Zettl, C. Adrain, K. Strisovsky, V. Lastun, and M. Freeman Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling Cell 145 2011 79 91
16. T. Nakagawa, A. Guichard, C.P. Castro, Y. Xiao, M. Rizen, H.-Z. Zhang, D. Hu, A. Bang, J. Helms, E. Bier, and R. Derynck Characterization of a human rhomboid homolog, p100hRho/RHBDF1, which interacts with TGF-α family ligands Dev. Dyn. 233 2005 1315 1331 (Pubitemid 40995129)
17. H. Zou, S.M. Thomas, Z.W. Yan, J.R. Grandis, A. Vogt, and L.Y. Li Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells FASEB J. 23 2009 425 432
18. J.G. Rheinwald, and H. Green Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells Cell 6 1975 331 343
19. A. Storey, D. Pim, A. Murray, K. Osborn, L. Banks, and L. Crawford Comparison of the in vitro transforming activities of human papillomavirus types EMBO J. 7 1988 1815 1820
20. S.M. Morley, S.R. Dundas, J.L. James, T. Gupta, R.A. Brown, C.J. Sexton, H.A. Navsaria, I.M. Leigh, and E.B. Lane Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients J. Cell Sci. 108 1995 3463 3471
21. O. Segatto, S. Anastasi, and S. Alemà Regulation of epidermal growth factor receptor signalling by inducible feedback inhibitors J. Cell Sci. 124 2011 1785 1793
22. S. Morgan, and J.R. Grandis ErbB receptors in the biology and pathology of the aerodigestive tract Exp. Cell Res. 315 2009 572 582
23. T. Iwaya, C. Maesawa, S. Ogasawara, and G. Tamura Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer Gastroenterology 114 1998 1206 1210 (Pubitemid 28243906)
24. M. Shahabi, M.R. Noori Daloii, J.E. Langan, L. Rowbottom, E. Jahanzad, E. Khoshbin, M. Taghikhani, J.K. Field, and J.M. Risk An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma Int. J. Oncol. 25 2004 389 395
25. M. von Brevern, M.C. Hollstein, J.M. Risk, J. Garde, W.P. Bennett, C.C. Harris, K.R. Muehlbauer, and J.K. Field Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q Oncogene 17 1998 2101 2105 (Pubitemid 28499336)
26. E. Rumiato, G. Pasello, M. Montagna, M.C. Scaini, G.L. De Salvo, A. Parenti, M. Cagol, A. Ruol, E. Ancona, A. Amadori, and D. Saggioro DNA copy number profile discriminates between esophageal adenocarcinoma and squamous cell carcinoma and represents an independent prognostic parameter in esophageal adenocarcinoma Cancer Lett. 310 2011 84 93
27. N. Presneau, K. Dewar, V. Forgetta, D. Provencher, A.M. Mes-Masson, and P.N. Tonin Loss of heterozygosity and transcriptome analyses of a 1.2 Mb candidate ovarian cancer tumor suppressor locus region at 17q25.1-q25.2 Mol. Carcinog. 43 2005 141 154 (Pubitemid 40944239)