Mutations in the human homologue of the Drosophila Patched gene in esophageal squamous cell carcinoma

Genes Chromosomes and Cancer

Volumn 21, Issue 3, 1998, Pages 276-279

  Maesawa, Chihaya ^a   Tamura, Gen ^a   Iwaya, Takeshi ^a   Ogasawara, Satoshi ^a   Ishida, Kaoru ^a   Sato, Nobuhiro ^a   Nishizuka, Satoshi ^a   Suzuki, Yasushi ^a   Ikeda, Kenichirou ^a   Aoki, Kiich ^a   Saito, Kazuyoshi ^a   Satodate, Ryoichi ^a  

^a IWATE MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASAL CELL CARCINOMA; CHROMOSOME LOSS; DNA SEQUENCE; DROSOPHILA; ESOPHAGUS CARCINOMA; GENE MUTATION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SQUAMOUS CELL CARCINOMA; TUMOR SUPPRESSOR GENE;

AMINO ACID SUBSTITUTION; ANIMALS; CARCINOMA, SQUAMOUS CELL; DROSOPHILA; DROSOPHILA PROTEINS; ESOPHAGEAL NEOPLASMS; GLUTAMINE; HUMANS; INSECT PROTEINS; LEUCINE; LOSS OF HETEROZYGOSITY; MEMBRANE PROTEINS; MUTATION; RECEPTORS, CELL SURFACE; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0031881427     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2264(199803)21:3<276::AID-GCC15>3.0.CO;2-N     Document Type: Article

References (24)

1. Aoki T, Mori T, XiQun D, Nisihira T, Matsubara T, Nakamura Y (1994) Allelotype study of esophageal carcinoma. Genes Chromosomes Cancer 10:177-182.
2. Chidamharam A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M (1996) Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599-4601.
3. Del Sal G, Collavin L, Ruaro ME, Edomi P, Saccone S, Della Valle G, Schneider C (1994) Structure, function, and chromosome mapping of the growth-suppressing human homologue of the murine gas1 gene. Proc Natl Acad Sci USA 91:1848-1852.
4. Gailani MR, Bale SJ, Leffell DJ, DiGiovanna, JJ, Peck GL, Poliack S, Drum MA, Pastakia B, McBride OW, Kase R, Green M, Mulvihill JJ, Bale AE (1992) Developmental defects in Gorlin syndrome related a putative tumor suppressor gene on chromosome 9. Cell 69:111-117.
5. Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Unden AB, Dean M, Brash DE, Bale AE, Toftgård R (1996) The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 14:78-81.
6. Gorlin RJ (1987) Nevoid basal cell carcinoma syndrome. Medicine 66:98-113.
7. Glynn M, Zaphiropoulos PG, Pressman C, Unden AB, Dean M, Brash DE, Bale AE, Toftgård R (1996) The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 14:78-81.
8. Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A, Gerrard B, Vorechovsky I, Bale AE, Toftgård R, Dean M, Wainwright B (1996a) A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J Biol Chem 271:12125-12128.
9. Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgård R, Chenevix-Trench G, Wainwright B, Bale AE (1996b) Mutations of the human homolog of Drosophila patched in nevoid basal cell carcinoma syndrome. Cell 85:841-851.
10. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671.
11. Maesawa C, Tamura G, Nishizuka S, Ogasawara S, Ishida K, Terashima M, Sakata K, Sato N, Saito K, Satodate R (1996) Inactivation of the CDKN2 gene by homozygous deletion and de novo methylation is associated with advanced stage esophageal squamous cell carcinoma. Cancer Res 56:3875-3878.
12. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin C (1996) Biochemical evidence that patched is the hedgehog receptor. Nature 384:176-179.
13. Merlo A, Herman JG, Mao L, Lee DJ, Gabrielson E, Burger PC, Baylin SB, Sidransky D (1995) 5′ CpG island methylation is associated with transcriptional silencing of the tumor suppressor P16/CDKN2/MTS1 in human cancers. Nat Med 1:686-692.
14. Miura K, Okita K, Furukawa Y, Matsuno S, Nakamura Y (1995) Deletion mapping in squamous cell carcinomas of the esophagus defines a region containing a tumor suppressor gene within a 4-centimorgan interval of distal long arm of chromosome 9. Cancer Res 55:1828-1830.
15. Mori T, Yanagisawa A, Kato Y, Miura K, Nisihira T, Mori S, Nakamura Y (1994) Accumulation of genetic alterations during esophageal carcinogenesis. Hum Mol Genet 3:1969-1971.
16. Nüsslein-Volhard C, Wieschaus E (1980) Mutations affecting segment number and polarity in Drosophila. Nature 287:795-801.
17. Pericak-Vance MA, Bale AE, Haines JL, Kwiatkowski DJ, Pilz A, Slaugenhaupt S, White JA, Edwards JH, Marchuk D, Olopade OI, Attwood J, Povey S (1995) Report on the Fourth International Workshop on Chromosome 9 held at Williamsburg, Virginia, USA, April 23-25, 1995. Ann Hum Genet 59:347-365.
18. Raffel C, Jenkins RB, Frederick L, Hebrink D, Alderete B, Fults DW, James CD (1997) Sporadic medulloblastomas contain PTCH mutations. Cancer Res 57:842-845.
19. Roelink H, Porter JA, Chiang C, Tanabe Y, Chang DT, Beachy PA, Jessell TM (1995) Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis. Cell 81:445-455.
20. Simoneau AR, Spruek CH III, Gonzalez-Zulueta M, Gonzalgo ML, Chan MF, Tsai YC, Dean M, Steven K, Horn T, Jones PA (1996) Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and initial screening for GAS1 and PTC mutations. Cancer Res 56:5039-5043.
21. Srone DM, Hynes M, Armanini M, Swanson TA, Qimin G, Johnson RL, Scott MP, Pennica D, Goddard A, Philips H, Noll M, Hoopper JE, de Sauvage F, Rosenthal A (1996) The tumor-suppressor gene patched encodes a candidate receptor for sonic hedgehog. Nature 384:129-134.
22. Suzuki K, Daigo Y, Fukuda S, Tokino T, Isomura M, Isono K, Wainwright B, Nakamura Y (1997) No evidence of mutation in human PTC gene, responsible for nevoid basal cell carcinoma syndrome, in human primary squamous cell carcinomas of the esophagus and lung. Jpn J Cancer Res 88:225-228.
23. Undén AB, Holmberg E, Lundh-Rozell B, Ståhle-Bäckdahl M, Zaphiropoulos PG, Toftgård R, Vorechovsky I (1996) Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and Gorlin syndrome: Different in vivo mechanisms of PTCH inactivation. Cancer Res 56:4562-4565.
24. Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen L-C, Scott MP, Epstein E Jr (1997) Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res 57:2369-2372.