NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer

Gut

Volumn 54, Issue 8, 2005, Pages 1129-1135

  Cacev T ^a   Radosevic S ^b   Spaventi, R ^b   Pavelic K ^a   Kapitanovic S ^a  

^a RUDER BO KOVI INSTITUTE   (Croatia)

^b PLIVA CROATIA LTD   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN; TUMOR MARKER;

ADULT; AGED; ARTICLE; CELL CYCLE; CELL DIFFERENTIATION; COLON CARCINOMA; CONTROLLED STUDY; DRUG TARGETING; EXON; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; TUMOR SUPPRESSOR GENE; VARIABLE NUMBER OF TANDEM REPEAT;

ADENOCARCINOMA; AGED; COLONIC NEOPLASMS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, NEUROFIBROMATOSIS 1; HUMANS; IMMUNOHISTOCHEMISTRY; LOSS OF HETEROZYGOSITY; MALE; NEUROFIBROMIN 1; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; RNA, MESSENGER; RNA, NEOPLASM;

EID: 22644446003     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2004.053348     Document Type: Article

References (28)

1. Chung CD. The genetic basis of colorectal cancer: Insights into critical pathways of tumorigenesis. Gastroenterology 2000;119:854-65.
2. Giles RH, van Es JH, Clevers H. Caught up in a Wnt storm: Wnt signalling in cancer. Biochim Biophys Act 2003;1653:1-24.
3. Kinzler K, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
4. Cawthon RM, Weiss R, Xu GF, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62:193-201.
5. Li Y, O'Connel P, Huntsman H, et al. Genomic organisation of the neurofibromatosis 1 gene (NF1). Genomics 1995;25:9-18.
6. Buchberg AM, Cleveland LS, Jenkins NA, et al. Sequence homology shared by neurofibromatosis type 1 gene and IRA-1 and IRA-2 negative regulators of the Ras cyclic AMP pathway. Nature 1990;347:291-4.
7. Ballester R, Marchuk D, Boguski M, et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990;63:851-9.
8. Bos JL. Ras oncogenes in human cancer: a review. Cancer Res 1989;49:4682-9.
9. Bernards A. Neurofibromatosis type 1 and Ras-mediated signalling: filling in the GAPs. Biochem Bioph Act 1995;1242:43-59.
10. Bernards A, Haase VH, Murthy AE, et al. Complete human cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line. DNA Cell Biol 1992;11:727-34.
11. Andersen LB, Ballester R, Marchuk DA, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol 1993;13:487-95.
12. Zhu Y, Parada LF. A particular GAP in mind. Nat Genet 2001;27:354-5.
13. Gutmann DH, Andersen LB, Cole JL, et al. An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in the muscle. Hum Mol Genet 1993;2:989-92.
14. Nishi T, Lee PS, Oka K, et al. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 1991;6:1555-9.
15. Aaltonen V, Bostrom PJ, Soderstrom KO, et al. Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumour suppressor gene in vivo and in vitro. Am J Pathol 1999;154:755-65.
16. Iyengar TD, Ng S, Lau CC, et al. Differential expression of NF1 type I and type II isoforms in sporadic borderline and invasive epithelial ovarian tumours. Oncogene 1999;18:257-62.
17. Spaventi R, Pečur L, Pavelić K, et al. Human tumour bank in Croatia: a possible model for a small bank as a part of future European tumour bank network. Eur J Cancer 1994;30:419.
18. Ainsworth PJ, Rodenhiser DJ. Rapid nonradioactive detection by PCR of pHHH202/Rsal RFLP linked to neurofibromatosis type I. Am J Hum Genet 1991;49:1098-9.
19. Xu G, Nelson L, O'Connell P, et al. An Alu polymorphism intragenic to the neurofibromatosis type 1 (NF1) gene. Nucleic Acid Res 1991;19:374-5.
20. Lazaro C, Gaona A, Estivill X. Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 1994;93:351-2.
21. Fodde R. The APC gene in colorectal cancer. Eur J Cancer 2002;38:867-71.
22. Rasmussen SA, Overman J, Thomson SA, et al. Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumours in neurofibromatosis type 1. Genes Chromosomes Cancer 2000;28:425-31.
23. Gutzmer R, Herbst RA, Mommert S, et al. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum Genet 2000;107:357-61.
24. Vandenbroucke I, Callens T, De Paepe A, et al. Compex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics 2002;3:13-23.
25. Bracco L, Kearsey J. The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotechnol 2003;21:346-53.
26. Mochizuki H, Nishi T, Bruner JM, et al. Alternative splicing of neurofibromatosis type 1 gene transcript in malignant brain tumours: PCR analysis of frozen-section mRNA. Mol Carcinogen 1992;6:83-7.
27. Wimmer K, Eckart M, Meyer-Puttlitz B, et al. Mutational and expression analysis of the NF1 gene argues against a role as tumour suppressor in sporadic pilocytic astrocytomas. J Neuropathol Exp Neurol 2002;61:896-902.
28. Uchida T, Matozaki T, Suzuki T, et al. Expression of two types of neurofibromatosis type 1 gene transcripts in gastric cancers and comparison of GAP activities. Biochem Biophys Res Commun 1992;187:332-9.