Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients

Cancer Genetics and Cytogenetics

Volumn 141, Issue 1, 2003, Pages 65-70

  Mihalatos, M ^a   Danielides, I ^b   Belogianni, J ^a   Harokopos, E ^a   Papadopoulou, E ^a   Kalimanis, G ^b   Tsiava, M ^f   Triantafillidis, J K ^f   Kosmidis, P A ^f   Fountzilas, G ^c   Basdanis, G ^c   Agnantis, N J ^d   Yannoukakos, D ^e   Nasioulas, G ^a  

^a Molecular Biology Research Center   (Greece)

^b HYGEIA HOSPITAL   (Greece)

^c ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^d Hellenic Grp Stud of Hered CRC   (Greece)

^e INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADENOMATOUS POLYP; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD; CLINICAL ARTICLE; DNA EXTRACTION; DNA POLYMORPHISM; DNA SEQUENCE; GENE AMPLIFICATION; GENE INACTIVATION; GENE MUTATION; GREECE; HUMAN; MEDULLOBLASTOMA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GREECE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 0037308633     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(02)00723-9     Document Type: Article

References (22)

1. Lockhart-Mummery A. Cancer and heredity. Lancet. 1:1925;427-429.
2. Hamilton S.R., Liu B., Parsons R.E., Papadopoulos N., Jen J., Powell S.M., Krush A.J., Berk T., Cohen Z., Tetu B.et al. The molecular basis of Turcot's syndrome. N Engl J Med. 332:1995;839-847.
3. Paraf F., Jothy S., Van Meir E.G. Brain tumor-polyposis syndrome. two genetic diseases? J Clin Oncol. 7:1997;2744-2758.
4. Bisgaard M.L., Fenger K., Bulow S., Niebuhr E., Mohr J. Familial adenomatous polyposis (FAP). frequency, penetrance, and mutation rate Hum Mutat. 3:1994;121-125.
5. Laken S.J., Papadopoulos N., Petersen G.M., Gruber S.B., Hamilton S.R., Giardiello F.M., Brensinger J.D., Vogelstein B., Kinzler K.W. Analysis of masked mutations in familial adenomatous polyposis. Proc Natl Acad Sci U S A. 96:1999;2322-2326.
6. Cottrell S., Bicknell D., Kaklamanis L., Bodmer W.F. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet. 340:1992;626-630.
7. Nagase H., Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat. 2:1993;425-434.
8. Beroud C., Soussi T. APC gene. database of germline and somatic mutations in human tumors and cell lines Nucleic Acids Res. 24:1996;121-124.
9. Munemitsu S., Albert I., Souza B., Rubinfeld B., Polakis P. Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein. Proc Natl Acad Sci U S A. 92:1995;3046-3050.
10. Yost C., Torres M., Miller J.R., Huang E., Kimelman D., Moon R.T. The axis-inducing activity, stability, and subcellular distribution of beta-catenin is regulated in Xenopus embryos by glycogen synthase kinase 3. Genes Dev. 10:1996;1443-1454.
11. Fearnhead N.S., Britton M.P., Bodmer W.F. The ABC of APC. Hum Mol Genet. 10:2001;721-733.
12. Su L.K., Johnson K.A., Smith K.J., Hill D.E., Vogelstein B., Kinzler K.W. Association between wild-type and mutant APC gene products. Cancer Res. 53:1993;2728-2731.
13. Giardiello F.M., Krush A.J., Petersen G.M., Booker S.V., Kerr M., Tong L.L., Hamilton S.R. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology. 106:1994;1542-1547.
14. Nugent K.P., Phillips R.K., Hodgson S.V., Cottrell S., Smith-Ravin J., Pack K., Bodmer W.F. Phenotypic expression in familial adenomatous polyposis. partial prediction by mutation analysis Gut. 35:1994;1622-1623.
15. Wu J.S., Paul P. McGannon, Church JM. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg. 7:1998;57-62.
16. Su L.K., Steinbach G., Sawyer J.C., Hindi M., Ward P.A., Lynch P.M. Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet. 106:2000;101-107.
17. Groden J., Thliveris A., Samowitz W., Carlson M., Gelbert L., Albertsen H., Joslyn G., Stevens J., Spirio L., Robertson M.et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 66:1991;589-600.
18. Dobbie Z., Spycher M., Mary J.L., Haner M., Guldenschuh I., Hurliman R., Amman R., Roth J., Muller H., Scott R.J. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet. 33:1996;274-280.
19. Sparks A.B., Morin P.J., Vogelstein B., Kinzler K.W. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res. 58:1998;1130-1134.
20. Slattery M.L., Samowitz W., Ballard L., Schaffer D., Leppert M., Potter J.D. A molecular variant of the APC gene at codon 1822. its association with diet, lifestyle, and risk of colon cancer Cancer Res. 61:2001;1000-1004.
21. Ruiz-Ponte C., Vega A., Conde R., Barros F., Carracedo A. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications. J Med Genet. 38:2001;E33.
22. Sved J., Bird A. The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model. Proc Natl Acad Sci USA. 87:1990;4692-4696.