Infrequent methylation of CDKN2A(MTS1/p16) and rare mutation of both CDKN2A and CDKN2B(MTS2/p15) in primary astrocytic tumours

British Journal of Cancer

Volumn 75, Issue 1, 1997, Pages 2-8

  Schmidt, E E ^a   Ichimura, K ^a   Messerle, K R ^a   Goike, H M ^a   Collins, V P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CDK4i; Cell cycle dependent kinase inhibitor; Glioma; Hypermethylation

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ANAPLASTIC CARCINOMA; ARTICLE; ASTROCYTOMA; CANCER GENETICS; CODON; CONTROLLED STUDY; DNA METHYLATION; DNA SEQUENCE; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GLIOBLASTOMA; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

EID: 0031012306     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/bjc.1997.2     Document Type: Article

References (37)

1. Arap W, Nishikawa R, Furnari FB, Cavenee WK and Huang H-JS (1995) Replacement of the p16/CDKN2 gene suppresses human glioma cell growth. Cancer Res 55: 1351-1354
2. Cairns P, Mao L, Merlo A, Lee DJ, Schwab D, Eby, Y, Tokino K, Vanderriet P, Blaugrund JE and Sidransky D (1994) Rates of p16(MTS1) mutations in primary tumors with 9p loss. Science 265: 415-416
3. Caldas C, Hahn SA, Dacosta LT, Redston MS, Schutte M, Seymour AB, Weinstein CL, Hruban RH, Yeo CJ and Kern SE (1994) Frequent somalic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nature Genet 8: 27-32
4. Giani C and Finocchiaro G (1994) Mutation rate of the CDKN2 gene in malignant gliomas. Cancer Res 54: 6338-6339
5. Gonzalez-Zulueta M, Bender CM, Yang AS, Nguyen T, Beart RW, Van Tornout JM and Jones PA (1995) Methylation of the 5′ CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing. Cancer Res 55: 4531-4535
6. Guan KL, Jenkins CW, Li Y, Nichols MA, Wu XY, Okeefe CL, Matera AG and Xiong Y (1994). Growth suppression by p18, a p16(INK4/MTS1)- and p14(INK4B/MTS2)-related CDK6 inhibitor, correlates with wild-type pRb function. Gene Dev 8: 2939-2952
7. Hannon GJ and Beach D (1994) p15(INK4B) is a potential effector of TGL-beta-induced cell cycle arrest. Nature 371: 257-261
8. Herman JG, Merlo A, Mao L, Lapidus RG, Issa JP, Davidson NE, Sidransky D and Baylin SB (1995) Inactivation ot the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res 55: 4525-45310
9. Hussussian CJ, Struewing JP, Goldstein AM, Higgins P, Ally DS, Sheahan MD, Clark WH, Tucker MA and Dracopoli NC (1994) Germline p16 mutations in familial melanoma. Nature Genet 8: 15-21
10. Ichimura K, Schmidt EE, Yamaguchi N, James CD and Collins VP (1994) A common region of homozygous deletion in malignant human gliomas lies between the IFN α/ω gene cluster and the D9S171 locus. Cancer Res 54: 3127-3130
11. INK4A, MTS1) and CDK4 genes have frequent mutations of the retinoblastoma gene. Oncogene 13: 1065-1072
12. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RSI, Johnson BE and Skolnick MH (1994a) A cell cycle regulator potentially involved in genesis of many tumor types. Science 264: 436-440
13. Kamb A, Shattuckeidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaverfeldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, Maclennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH and Cannon-Albright LA (1994b) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 8: 22-26
14. Li Y, Nichols MA, Shay JW and Xiong Y (1994) Transcriptional repression of the D-type cyclin-dependent kinase inhibitor p16 by the retinoblastoma susceptibility gene product pRb. Cancer Res 54: 6078-6082
15. Li YJ, Hoangxuan K, Delattre JY, Poisson M, Thomas G and Hamelin R (1995) Frequent loss of heterozygosity on chromosome 9, and low incidence of mutations of cyclin-dependent kinase inhibitors p15 (mts2) and p16 (mtsl) genes in gliomas. Oncogene 11: 597-600
16. Mao L, Merlo A, Bedi G, Shapiro GI, Edwards CD, Rollins BJ and Sidransky D (1995) A novel p16INK4A transcript. Cancer Res 55: 2995-2997
17. Merlo A, Herman JG, Mao L, Lee DJ, Gabrielson E, Burger PC, Baylin SB and Sidransky D (1995) 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nature Med 1: 686-692
18. Mori T, Miura K, Aoki T, Nishihira T, Mori S and Nakamura Y (1994) Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma. Cancer Res 54: 3396-3397
19. Moulton T, Samara G, Chung WY, Yuan L, Desai R, Sisti M, Bruce J and Tycko B (1995) MTS1/p16/CDKN2 lesions in primary glioblastoma multiforme. Am J Pathol 146: 613-619
20. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K and Carson DA (1994). Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368: 753-756
21. Okamoto A, Hussain SP, Hagiwara K, Spillare EA, Rusin MR, Demetrick DJ, Serrano M, Hannon GJ, Shiseki M, Zariwala M et al (1995) Mutations in the p16INK4/MTS1/CDKN2, p15INK4B/MTS2, and p18 genes in primary and metastatic lung cancer. Cancer Res 55: 1448-1451
22. INK1 protein induction by 5-aza 2'deoxycytidine. Oncogene 11: 1211-1216
23. Parry D, Bates S, Mann DJ and Peters G (1995) Lack of cyclin D-Cdk complexes in Rb-negative cells correlates with high levels of p16(INK4/MTS1) tumour suppressor gene product. EMBO J 14: 503-511
24. Quelle DE, Zindy F, Ashmun RA and Sherr CJ (1995) Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 83: 993-100
25. Reifenberger G, Liu L, Ichimura K, Schmidt EE and Collins VP (1993) Amplification and overexpression of the MDM2 gene in a subset of human malignant gliomas without p53 mutations. Cancer Res 53: 2736-2739
26. Reifenberger G, Reifenberger J, Ichimura K, Meltzer PS and Collins VP (1994) Amplification of multiple genes from chromosomal region 12q13-14 in human malignant gliomas: Preliminary mapping of the amplicons shows preferential involvement of CDK4, SAS, and MDM2, Cancer Res 54: 4299-4303
27. Schmidt EE, Ichimura K, Reifenberger G and Collins VP (1994) CDKN2 (p16/MTS1) gene deletion or CDK4 amplification occurs in the majority of glioblastomas. Cancer Res 54: 6321-6324
28. Serrano M, Hannon GJ and Beach D (1993) A new regulatory motif in cell cycle control causing specific inhibition of cyclin/CDK4. Nature 366: 704-707
29. Sonoda Y, Yoshimoto T and Sekiya T (1995) Homozygous deletion of the MTS1/p16 and MTS2/p15 genes and amplification of the CDK4 gene in glioma. Oncogene 11: 2145-2149
30. Spruck CH, Gonzalezzuleueta M, Shibata A, Simoneau AR, Lin MF, Gonzales F, Tsai YC and Jones PA (1994) p16 gene in uncultured tumours. Nature 370: 183-184
31. Stone S, Jiang P, Dayananth P, Tavtigian SV, Katcher H, Parry D, Peters G and Kamb A (1995) Complex structure and regulation of the p16 (MTS1) locus. Cancer Res 55: 2988-29914
32. Suzuki H, Zhou XL, Yin J, Lei JY, Jiang HY, Suzuki Y, Chan T, Hannon GJ, Mergner WJ, Abraham JM and Meltzer SJ (1995) Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers. Hum Mol Genet 4: 1883-1887
33. Tenan M, Benedetti S and Finocchiaro G (1995) Deletion and transfection analysis of the p15/MTS2 gene in malignant gliomas. Biochem Biophys Rev Commun 217:195-202
34. Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, Vondeimling A, Buckler AJ, Gusella, JF and Louis DN (1994) MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum Mol Genet 3: 1841-1845
35. Ueki K, Ono Y, Henson JW, Efird JT, Von Deimling A and Louis DN (1996) CDKN2/p16 or RB alterations occur in the majority of glioblastomas and are inversely correlated. Cancer Res 56: 150-153
36. Washimi O, Nagatake M, Osada H, Ueda R, Koshikawa T, Seki T, Takahashi T and Takahashi T (1995) In vivo occurrence of p16 (MTS1) and p15 (MTS2) alterations preferentially in non-small cell lung cancers. Cancer Res 55: 514-517
37. Yang R, Gombart AF, Serrano M and Koeffer HP (1995) Mutational effects on the p16INK4a tumor suppressor protein. Cancer Res 55: 2503-2506