Hereditary TP53 codon 292 and somatic P16(INK4A) codon 94 mutations in a Li-Fraumeni syndrome family

Cancer Genetics and Cytogenetics

Volumn 113, Issue 2, 1999, Pages 145-151

  Güran, Şefik ^a   Tunca, Yusuf ^a   Imirzalioglu, Necat ^a  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MALE; MEDULLOBLASTOMA; MISSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEMINOMA; SINGLE STRAND CONFORMATION POLYMORPHISM; THYMOMA;

ADULT; CARRIER PROTEINS; CELL CYCLE PROTEINS; CEREBELLAR NEOPLASMS; CODON; CYCLIN-DEPENDENT KINASE INHIBITOR P15; CYCLIN-DEPENDENT KINASE INHIBITOR P16; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LI-FRAUMENI SYNDROME; LOSS OF HETEROZYGOSITY; MALE; MEDULLOBLASTOMA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEMINOMA; SEQUENCE ANALYSIS, DNA; TESTICULAR NEOPLASMS; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

EID: 0344993959     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(98)00276-3     Document Type: Article

References (39)

1. Connor M., Ferguson-Smith M. Medical Genetics. 1997;162-176 Blackwell Science, London.
2. Mulkin D., Li P.F., Strong L.C., Fraumeni J.F., Nelson C.E., Kim D.H., Kassel J., Gryka M.A., Bischoff F.A., Tainsky M.A., Friend S.H. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science. 250:1990;1233-1238.
3. Imamura J., Miyashi I., Koeffler P.H. p53 in hematologic malignancies. Blood. 84:1994;2412-2421.
4. Marx J. How p53 suppresses cell growth. Science. 262:1993;1644-1645.
5. el-Deiry D.W., Harper J.W., O'Connor P.M., Velculescu V.E., Canman C.E., Jackman J., Pietenpol J.A., Burrel M., Hill D.E., Wang Y., Wiman K.G., Mercer W.E., Kastan M.B., Kohn K.W., Elledge S.J., Kinzler K.W., Vogelstain B. WAF1/CIP 1 is induced in p 53-mediated G1 arrest and apoptosis. Cancer Res. 54:1994;1169-1174.
6. Morgan D.O. Principles of CDK regulation. Nature. 374:1995;131-134.
7. Nurse P. Ordering S phase and M phase in the cell cycle. Cell. 79:1994;547-550.
8. Sherr C.S. G1 phase progression. cycling on the clue Cell. 79:1994;551-555.
9. Hunter T., Pines J. Cyclins and cancer II. cyclin D and CDK inhibitors come of age Cell. 79:1994;573-582.
10. Zhang Y., Xiong Y., Yarbrough W.G. ARF promotes MDM2 degredation and stabilizes p53. ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways Cell. 92:1998;725-734.
11. Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell. 92:1998;713-725.
12. INK4A) somatic and germline mutations. Hum Mutat. 7:1996;294-303.
13. Liu L., Lassam N.J., Slingerland J.M., Bailey D., Cole D., Jenkins R., Hogg D. Germline p16 INK4A mutation and protein dysfunction in a family with inherited melanoma. Oncogene. 11:1995;405-412.
14. KIP2 mutation in Beckwith-Wiedemann Syndrome. Am J Hum Genet. 61:1997;304-309.
15. Sambrook J., Fritsch E.F., Maniatis T. Molecular Cloning. 1998;New York, Cold Spring Harbor Laboratory Press.
16. Wright D.K., Manos M.M. Sample preparation from paraffin-embedded tissues. Innis M.A. PCR Protocols. A Guide to Methods and Application:1990;153-158 Academic Press Inc, San Diego.
17. Buchman V.L., Chumakov P.M., Ninkina N.N., Samarina O.P., Georgiev G.P. A variation in the structure of the protein-coding region of human p53 gene. Gene. 70:1998;245-252.
18. KIP2 mutation in Beckwith-Wiedemann Syndrome. Am J Hum Genet. 61:1997;304-309.
19. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics. 5:1989;874-879.
20. Dreyling H.M., Bohlaander S.K., Adeyanju M.O., Olopade O.I. Detection of CDKN2 deletions in tumor cell lines and primary glioma by interphase fluorescence in situ hybridization. Cancer Res. 55:1995;984-988.
21. Rao P.H., Murty V.V.V.S., Gaidano G., Hauptschein R., Dalla-Favera R., Chaganti R.S.K. Subregional localization of 20 single-copy loci to chromosome 6 by fluorescence in situ hybridization. Genomics. 16:1993;426-430.
22. Mathew S., Murty V.V.V.S., Hunziker W., Chaganti R.S.K. Subregional mapping of 13 single copy genes on long arm of chromosome 12 by fluorescence in situ hybridization. Genomics. 14:1992;775-779.
23. Hopman A.H.N., van Hooren E., van de Kaa C.A., Vooijs P.G.P., Ramaekers F.C.S. Detection of numerical chromosome aberrations using in situ hybridization in paraffin sections of routinely processed bladder cancers. Mod Pathol. 4:1991;503-513.
24. Hahn M., Serth J., Fislage R., Wolfes H., Allhoff E., Jones U., Pingoud A. Polymerase chain reaction detection of a highly polymorphic VNTR segment in intron 1 of the p53 gene. Clin Chem. 39:1993;549-550.
25. Greenwald B.D., Harpaz N., Yin J., Huang Y., Tong Y., Brown V.L., Mc Daniel T., Newkirk C., Ressau J.H., Meltzer S.J. Loss of heterozygosity affecting the p53, Rb and mcc/apc tumor suppressor gene loci in dysplastic and cancerous ulcerative colitis. Cancer Res. 52:1992;741-745.
26. Mc Daniel T., Carbone D., Takahashi T., Chumakov P., Chang E.H., Pirollo K.F., Yin J., Huang Y., Meltzer S.J. The Msp 1 polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products. Nucleic Acids Res. 19:1991;4796.
27. Barel D., Avigad S., Mor C., Fogel M., Cohen I.J., Ziazov R. A novel germ-line mutation in noncoding region of the p53 gene in a Li-Fraumeni Family. Cancer Genet Cytogenet. 103:1998;1-6.
28. Fernandez-Piqueras J., Santos J., Castro P.C., Melendez B., Martinez B., Robledo M., Rivas C., Benitez J. Frequent allelic losses of 9p21 markers and low incidence of mutations at p16(CDKN2) gene in non-Hodgkin Lymphomas of B-cell lineage. Cancer Genet Cytogenet. 98:1997;63-68.
29. Prokacimer M., Rotter V. p53 and human malignancies. Campbell M.L., Arlinghaus R.B. Advances in Cancer Research. 1991;257-272 Academic Press Inc, New York.
30. Avigon S., Barel D., Blau O., Malka A., Zoldan M., Mor C., Fogel A., Cohen I.J., Stark B., Gashen Y., Stein J., Zaizov R. A novel germline p53 mutation in intron 6 in diverse childhood malignancies. Oncogene. 14:1997;1541-1545.
31. Levine A.S., Momand J., Finlay A.C. The p53 tumor suppressor gene. Nature. 351:1991;453-456.
32. Sun X.F., Johannson D., Hakansson S., Sellberg G., Nordensbjold R., Olsson H., Borg A. A novel p53 germline alteration identified in a late onset breast cancer kindred. Oncogene. 13:1996;407-411.
33. Varley J.M., Brammar W.J., Lane P.D., Swallow J.E., Dolan C., Walker R.A. Loss of chromosome 17p13 sequences and mutation of p53 in human breast carcinomas. Oncogene. 6:1991;413-421.
34. Stadler W.M., Sherman J., Bohlander S.K., Roulstan D., Dreyling M., Rukstalis D., Olopade O.I. Homozygous deletions within chromosomal bands 9p21-22 in bladder cancer. Cancer Res. 54:1994;2060-2065.
35. INK4A and p57KIP2 mutations during the progression of chronic myeloid leukemia. Haematologia. 29:1998;181-193.
36. INK4B homozygous deletions in papilloma virus type 16 positive scrotal cancer. Cancer Genet Cytogenet. 109:1999;108-113.
37. Lilischikis R., Sorcevic R., Kennedy C., Warlters A., Sutherland R.I. Cancer-associated missense and deletion mutations impair p16 INK4 CDK inhibitory activity. Int J Cancer. 66:1896;294-304.
38. Pollack P.M., Pearson J.V., Hayvard N.K. Compilation of somatic mutations of the CDKN2 gene in human cancers. Nonrandom distribution of base substitutions. Genes Chromosom Cancer. 15:1996;77-88.
39. Schiman S.A., Aplan P.D., Neri A., Fracchiola N.S., Virgilio L., Croce C.M. Pathogenesis of T cell lymphomas. Magraath I.T. The Non-Hodgkin Lymphomas. 2nd Ed:1997;1356-1374 Oxford University Press, New York.