Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome

Cancer Letters

Volumn 132, Issue 1-2, 1998, Pages 119-125

  Barel, Dalit ^a   Cohen, Ian J ^b   Mor, Celia ^c   Stern, Sidi ^c   Shapiro, Rivka ^b   Shomrat, Ruth ^a   Galanti, Yaron ^a   Legum, Cyril ^a   Zaizov, Rina ^a,b   Avigad, Smadar ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

Author keywords

APC; p53 mutations; Turcot's syndrome

Indexed keywords

PROTEIN P53;

ARTICLE; ASTROCYTOMA; CASE REPORT; CODON; COLON POLYP; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; NEUROEPITHELIOMA; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; TUMOR SUPPRESSOR GENE; TURCOT SYNDROME;

ADENOMATOUS POLYPOSIS COLI; ASTROCYTOMA; BASE SEQUENCE; BRAIN NEOPLASMS; CHILD; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FATAL OUTCOME; GENES, P53; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SYNDROME; TUMOR SUPPRESSOR PROTEIN P53;

EID: 0032561462     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3835(98)00167-0     Document Type: Article

References (31)

1. Crail H.W. Multiple primary malignancies arising in the rectum, brain and thyroid. US Navy Med. Bull. 49:1949;123-128.
2. Lasser D.M., DeVivo D.C., Garvin J., Wilhelmsen K.C. Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus. Neurology. 44:1994;1083-1086.
3. Todd D.W., Christoferson L.A., Leech R.W., Rudolf L. A family affected with intestinal polyposis and gliomas. Ann. Neurol. 10:1981;390-392.
4. Turcot J., Despres J.P., St. Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of 2 cases. Dis. Colon Rectum. 2:1959;46-48.
5. Cunningham C., Dunlop M.G. Genetics of colorectal cancer. Br. Med. Bull. 50:1994;640-655.
6. Miyoshi Y., Nagase H., Ando H., Horii A., Ichii S., Nakatsuru S., Aoki T., Miki Y., Mori T., Nakamura Y. Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum. Mol. Genet. 4:1992;229-233.
7. Nagase H., Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat. 2:1993;425-434.
8. Hamilton S.R., Liu B., Parsons R.E., Papadopoulos N., Jen J., Powell S.M., Krush A.J., Berk T., Cohen Z., Tetu B., Burger P.C., Wood P.A., Taqi F., Booker S.V., Petersen G.M., Offerhause G.J.A., Tersmette A.C., Giardiello F.M., Vogelstein B., Kinzler K.W. The molecular basis of Turcot's syndrome. N. Engl. J. Med. 332:1995;839-847.
9. Mori T., Nagase H., Horii A., Miyoshi Y., Shimano T., Nakatsuru S., Aoki T., Arakawa H., Yanagisawa A., Ushio Y., Takano S., Ogawa M., Nakamura M., Shibuya M., Nishikawa R., Matsutani M., Hayashi Y., Takahashi H., Ikuta F., Nishihira T., Mori S., Nakamura Y. Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Genes Chromosome Cancer. 9:1994;168-172.
10. Lynch H.T., Schuelke G.S., Kimberling W.J., Albano W.A., Lynch J.F., Biscone K.A., Lipkin M.L., Deschner E.E., Mikol Y.B., Sandberg A.A., Elston R.C., Bailey-Wilson J.E., Shannon Danes B. Hereditary non-polyposis colorectal cancer (Lynch syndromes 1 and 2): biomarker studies. Cancer. 56:1985;939-951.
11. Paraf F., Jothy S., Van Meir E.G. Brain tumor-polyposis syndrome: two genetic diseases? J. Clin. Oncol. 15:1997;2744-2758.
12. Greenblatt M.S., Bennett W.P., Hollstein M., Harris C.C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res. 54:1994;4855-4878.
13. Hollstein M., Sidransky D., Vogelstein B., Harris C.C. p53 mutations in human cancers. Science. 253:1991;49-53.
14. Malkin D. p53 and the Li-Fraumeni syndrome. Biochem. Biophys. Acta. 1198:1994;197-213.
15. Malkin D., Li F.P., Strong L.C., Fraumeni J.F. Jr., Nelson C.E., Kim D.H., Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A., Friend S.H. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science. 250:1990;1233-1238.
16. M.S. Berger, S.A. Leibel, J.M. Bruner, J.L. Finlay, V.A. Levin, Primary central nervous system tumors of the supratentorial compartment, in: Cancer in the Nervous System, Churchill Livingstone, London, 1996, pp. 57-126.
17. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 3:1988;1215.
18. Premoli-De-Percoco G., Guevara P., Galindo I., Ramirez J.L. Rapid recovery of DNA from paraffin embedded tissue sections for routine chain reaction analysis. Methods Mol. Cell. Biol. 4:1994;266-268.
19. Roest P.A.M., Roberts R.G., Sugino S., van Ommen G.-J.B., den Dunnen J.T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Mol. Genet. 2:1993;1719-1721.
20. Van der Luijt R., Khan P.M., Vasen H., van-Leeuwen C., Tons C., Roset P., den-Dunnen J., Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics. 20:1994;1-4.
21. Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
22. Sanger F., Nicklin S., Coulson A.R. DNA sequencing with chain determining inhibitors. Proc. Natl. Acad. Sci. USA. 47:1977;5463-5467.
23. Barel D., Avigad S., Michovitz S., Cohen I.J., Zaizov R. Infrequent p53 mutation and mdm-2 gene amplification in childhood brain tumors. Int. J. Pediatr. Hematol. Oncol. 4:1996;91-100.
24. Coughlan B., Feliz A., Ishida T., Czerniak B., Dorfman H.D. p53 expression and DNA ploidy of cartilage lesions. Hum. Pathol. 26:1995;620-624.
25. Yong W.H., Raffel C., Von Diemling A., Louis D.N. The APC gene in Turcot's syndrome. N. Engl. J. Med. 333:1995;524.
26. Kikuchi T., Rempel S.A., Rutz H.P., de Tribolet N., Mulligan L., Cavenee W.K., Jothy S., Leduy L., Van Meir E.G. Turcot's syndrome of glioma and polyposis occurs in the absence of germline mutations of exons 5 to 9 of the p53 gene. Cancer Res. 53:1993;957-961.
27. Rochlitz C.F., Heide I., de Kant E., Neubauer A., Schmidt C.A., Neuhaus P., Huhn D., Herrmann R. Molecular alterations in a patient with Turcot's syndrome. Br. J. Cancer. 68:1993;519-523.
28. Itoh H., Hirata K., Ohsato K. Turcot's syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature. Int. J. Colorect. Dis. 8:1993;87-94.
29. Felix C.A., Slavc I., Dunn M., Strauss E.A., Phillips P.C., Rorke L.B., Sutton L., Bunin G.R., Biegel J.A. p53 mutations in pediatric brain tumors. Med. Pediatr. Oncol. 25:1995;431-436.
30. Phelan C.M., Liu L., Ruttledge M.H., Muntzning K., Ridderheim P.-A., Collins V.P. Chromosome 17 abnormalities and lack of TP53 mutations in pediatric central nervous system tumors. Hum. Genet. 96:1995;684-690.
31. Rasheed B.K.A., McLendon R.E., Herndon J.E., Friedman H.S., Friedman A.H., Bigner D.D., Bigner S.H. Alteration of the TP53 gene in human gliomas. Cancer Res. 54:1994;1324-1330.