The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds

Journal of Pediatrics

Volumn 147, Issue 2, 2005, Pages 263-266

  Hirschman, Barbara A ^b   Pollock, Brad H ^b   Tomlinson, Gail E ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ADENOMATOUS POLYP; ADULT; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; COLON POLYPOSIS; CONTROLLED STUDY; DNA EXTRACTION; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEPATOBLASTOMA; HUMAN; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADENOMATOUS POLYPOSIS COLI; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, APC; HEPATOBLASTOMA; HUMANS; INFANT; LIVER NEOPLASMS; MALE; MIDDLE AGED; MUTATION;

EID: 23944461569     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.04.019     Document Type: Article

References (25)

1. J. Ross, and J. Gurney Hepatoblastoma incidence in the United States from 1973 to 1992 Med Pediatr Oncol 30 1998 141 142
2. F. Giardiello, G. Offerhaus, A. Krush, S. Booker, A. Tersmette, and J. Mulder Risk of hepatoblastoma in familial adenomatous polyposis J Pediatr 119 1991 766 768
3. L. Hughes, and V. Michels Risk of hepatoblastoma in familial adenomatous polyposis Am J Med Genet 43 1992 1023 1025
4. G. Joslyn, M. Carlson, A. Thliveris, H. Albertsen, L. Gelbert, and W. Samowitz Identification of deletions mutations and three new genes at the familial polyposis locus Cell 66 1991 601 613
5. K. Kinzler, M. Nilbert, L. Su, B. Vogelstein, T. Bryan, and D. Levy Identification of FAP locus genes from chromosome 5q21 Science 253 1991 661 665
6. Y. Miyoshi, H. Ando, H. Nagase, I. Nishisho, A. Horii, and Y. Miki Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients Proc Natl Acad Sci USA 89 1992 4452 4456
7. Y. Wallis, D. Morton, C. McKeown, and F. MacDonald Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of the APC amino acid changes in colorectal cancer predisposition J Med Genet 36 1999 14 20
8. F. Giardiello, G. Petersen, J. Bresinger, M. Luce, M. Cayouette, and J. Bacon Hepatoblastoma and APC gene mutation in familial adenomatous polyposis Gut 39 1996 867 869
9. G. Montalto, F. Cetta, M. Gori, M. Zuckermann, G. Morgese, and C. Rango Germ-line mutations of the APC gene in patients with FAP associated hepatoblastoma are located out of the mutation cluster region (Codons 1286-1513) Gastroenterology 118 Pt 1, Suppl 2 2000 446
10. F. Cetta, L. Mazzaarella, G. Bon, M. Zuckermann, A. Casorelli, and H. Nounga Genetic alterations in hepatoblastoma and hepatocellular carcinoma associated with familial adenomatous polyposis Med Pediatr Oncol 41 2003 496 497
11. J. Groden, A. Thliveris, W. Samowitz, M. Carlson, L. Gelbert, and H. Albertsen Identification and characterization of the familial adenomatous polyposis gene Cell 66 1991 589 600
12. M. Orita, H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci USA 86 1989 2766 2770
13. D. Thomas, J. Pritchard, R. Davidson, P. McKiernan, R. Grundy, and J. de Ville de Goyet Familial hepatoblastoma and APC gene mutations: renewed call for molecular research Eur J Cancer 39 2003 2200 2204
14. T. Inukai, K. Furuuchi, K. Sugita, K. Uno, A. Ooi, and F. Sasaki Nuclear accumulation of beta-catenin without an additional somatic mutation in coding region of the APC gene in hepatoblastoma from a familial adenomatous polyposis patient Oncol Res 11 2004 121 126
15. J. Gerbert, C. Dupon, M. Kadmon, M. Hahn, C. Herfarth, and M. von Knebel Doeberitz Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli Annals Surg 229 1999 350 361
16. H. Lynch, A. Thorson, R. McComb, B. Franklin, S. Tinley, and J. Lynch Familial adenomatous polyposis and extracolonic cancer Dig Dis Sci 46 2001 2325 2332
17. J. Young, M. Barker, T. Robertson, S. Nasioulas, A. Tannenberg, and R. Buttenshaw A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis J Clin Pathol 55 2002 230 232
18. R. Caspari, S. Olschwang, W. Friedl, M. Mandl, C. Boisson, and T. Böker Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444 Hum Mol Genet 4 1995 337 340
19. J. Ortega, E. Douglass, J. Feusner, M. Reynolds, J. Quinn, and M. Finegold Randomized comparison of Cisplatin/Vincristine/Fluorouracil and Cisplatin/Continous infusion Doxorubicin for treatment of pediatric hepatoblastoma: a report from the Children's Cancer Group and the Pediatric Oncology Group J Clin Oncol 18 2000 2665 2675
20. G. Tomlinson, and M. Finegold Tumors of the liver P. Pizzo D. Poplack Principles and practice of pediatric oncology 2002 Lippincott, Williams, & Wilkins Philadelphia 847 864
21. C. Clericuzio, E. Chen, D. McNeil, T. O'Connor, E. Zackai, and L. Medne Serum a-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia J Pediatr 143 2003 270 272
22. A. Guttmacher, F. Collins, and R. Carmona The family history - more important than ever N Engl J Med 351 2004 2333 2336
23. R. Touriño, R. Conde-Freire, J. Cabezas-Agrícola, T. Rodríguez-Aves, M. López-Valladares, and J. Otero-Cepeda Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis Int Ophthamol 25 2004 101 112
24. E.I. Traboulsi, A.J. Krush, E.J. Gardner, S.V. Booker, G.J. Offerhaus, and J.H. Yardley Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome N Engl J Med 316 1987 661 667
25. P. Laurent-Puig, C. Béroud, and T. Soussi APC gene: database of germline and somatic mutations in human tumors and cell lines Nucl Acid Res 26 1998 269 270