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Results: 1 to 20 of 347

1.

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.

Couture J, Mitri A, Lagace R, Smits R, Berk T, Bouchard HL, Fodde R, Alman B, Bapat B.

Clin Genet. 2000 Mar;57(3):205-12.

PMID:
10782927
[PubMed - indexed for MEDLINE]
2.

Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors).

Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ.

Am J Pathol. 1997 Aug;151(2):329-34.

PMID:
9250146
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.

Su LK, Barnes CJ, Yao W, Qi Y, Lynch PM, Steinbach G.

Am J Hum Genet. 2000 Sep;67(3):582-90. Epub 2000 Aug 3.

PMID:
10924409
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

Scott RJ, Froggatt NJ, Trembath RC, Evans DG, Hodgson SV, Maher ER.

Hum Mol Genet. 1996 Dec;5(12):1921-4.

PMID:
8968744
[PubMed - indexed for MEDLINE]
Free Article
5.

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.

de Silva DC, Wright MF, Stevenson DA, Clark C, Gray ES, Holmes JD, Dean JC, Haites NE, Dunlop MG.

Cancer. 1996 Mar 1;77(5):972-6.

PMID:
8608492
[PubMed - indexed for MEDLINE]
6.

Frequent mutations in the beta-catenin gene in desmoid tumors from patients without familial adenomatous polyposis.

Miyoshi Y, Iwao K, Nawa G, Yoshikawa H, Ochi T, Nakamura Y.

Oncol Res. 1998;10(11-12):591-4.

PMID:
10367940
[PubMed - indexed for MEDLINE]
7.

Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype.

Miyaki M, Yamaguchi T, Iijima T, Takahashi K, Matsumoto H, Yasutome M, Funata N, Mori T.

Int J Cancer. 2008 Jun 1;122(11):2491-7. doi: 10.1002/ijc.23390.

PMID:
18224684
[PubMed - indexed for MEDLINE]
8.

Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli.

Bläker H, Sutter C, Kadmon M, Otto HF, Von Knebel-Doeberitz M, Gebert J, Helmke BM.

Genes Chromosomes Cancer. 2004 Oct;41(2):93-8.

PMID:
15287021
[PubMed - indexed for MEDLINE]
9.

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, Tomlinson I, Phillips R, Silver A.

Hum Mol Genet. 2007 Jan 1;16(1):78-82. Epub 2006 Nov 29.

PMID:
17135276
[PubMed - indexed for MEDLINE]
Free Article
10.

3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.

Benoit L, Faivre L, Cheynel N, Ortega-Deballon P, Facy O, Marty M, Olschwang S, Fraisse J, Cuisenier J.

J Clin Gastroenterol. 2007 Mar;41(3):297-300.

PMID:
17426470
[PubMed - indexed for MEDLINE]
11.

Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma.

Brueckl WM, Ballhausen WG, Förtsch T, Günther K, Fiedler W, Gentner B, Croner R, Boxberger F, Kirchner T, Hahn EG, Hohenberger W, Wein A.

Dis Colon Rectum. 2005 Jun;48(6):1275-81.

PMID:
15793634
[PubMed - indexed for MEDLINE]
12.

Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.

Ponz de Leon M, Varesco L, Benatti P, Sassatelli R, Izzo P, Scarano MI, Rossi GB, Di Gregorio C, Gismondi V, Percesepe A, de Rosa M, Roncucci L.

Dis Colon Rectum. 2001 Nov;44(11):1597-604.

PMID:
11711730
[PubMed - indexed for MEDLINE]
13.

Possible association between higher beta-catenin mRNA expression and mutated beta-catenin in sporadic desmoid tumors: real-time semiquantitative assay by TaqMan polymerase chain reaction.

Saito T, Oda Y, Kawaguchi K, Tanaka K, Matsuda S, Tamiya S, Iwamoto Y, Tsuneyoshi M.

Lab Invest. 2002 Jan;82(1):97-103.

PMID:
11796830
[PubMed - indexed for MEDLINE]
14.

Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor).

Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P, Van Cutsem E, Bapat B, van Roy F, Cassiman JJ, Alman BA.

Oncogene. 1999 Nov 11;18(47):6615-20.

PMID:
10597266
[PubMed - indexed for MEDLINE]
Free Article
15.

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

Venesio T, Balsamo A, Rondo-Spaudo M, Varesco L, Risio M, Ranzani GN.

Lab Invest. 2003 Dec;83(12):1859-66.

PMID:
14691304
[PubMed - indexed for MEDLINE]
16.

Analysis of Wnt/Beta catenin signalling in desmoid tumors.

Tejpar S, Michils G, Denys H, Van Dam K, Nik SA, Jadidizadeh A, Cassiman JJ.

Acta Gastroenterol Belg. 2005 Jan-Mar;68(1):5-9. Review.

PMID:
15832580
[PubMed - indexed for MEDLINE]
17.

A beta-catenin mutation in a sporadic colorectal tumor of the RER phenotype and absence of beta-catenin germline mutations in FAP patients.

Müller O, Nimmrich I, Finke U, Friedl W, Hoffmann I.

Genes Chromosomes Cancer. 1998 May;22(1):37-41.

PMID:
9591632
[PubMed - indexed for MEDLINE]
18.

Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.

Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O'Donnell P, Flanagan AM.

Am J Surg Pathol. 2007 Sep;31(9):1299-309.

PMID:
17721184
[PubMed - indexed for MEDLINE]
19.
20.

Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, du Boulay C, Primrose J, Burn J, Fodde R.

Am J Hum Genet. 1996 Dec;59(6):1193-201.

PMID:
8940264
[PubMed - indexed for MEDLINE]
Free PMC Article

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