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Items: 1 to 20 of 147

1.

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Rohlin A, Engwall Y, Fritzell K, Göransson K, Bergsten A, Einbeigi Z, Nilbert M, Karlsson P, Björk J, Nordling M.

Oncogene. 2011 Dec 15;30(50):4977-89. doi: 10.1038/onc.2011.201. Epub 2011 Jun 6.

2.

Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations.

Segditsas S, Sieber OM, Rowan A, Setien F, Neale K, Phillips RK, Ward R, Esteller M, Tomlinson IP.

Exp Mol Pathol. 2008 Dec;85(3):201-6. doi: 10.1016/j.yexmp.2008.09.006. Epub 2008 Oct 11.

PMID:
18977219
3.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TR, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G.

Am J Hum Genet. 2016 May 5;98(5):830-42. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14.

4.

APC promoter 1B deletion in familial polyposis--implications for mutation-negative families.

Kadiyska TK, Todorov TP, Bichev SN, Vazharova RV, Nossikoff AV, Savov AS, Mitev VI.

Clin Genet. 2014 May;85(5):452-7. doi: 10.1111/cge.12210. Epub 2013 Jun 24.

PMID:
23725351
5.

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW, Neklason DW.

Clin Genet. 2015 Oct;88(4):360-5. doi: 10.1111/cge.12503. Epub 2014 Oct 14.

6.

Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes.

Andreasson A, Sulaiman L, do Vale S, Martins JM, Ferreira F, Miltenberger-Miltenyi G, Batista L, Haglund F, Björck E, Nilsson IL, Höög A, Larsson C, Juhlin CC.

Fam Cancer. 2012 Sep;11(3):355-62. doi: 10.1007/s10689-012-9520-z.

PMID:
22395475
7.

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.

Albuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ, Leitão CN, Fodde R, Smits R.

Hum Mol Genet. 2002 Jun 15;11(13):1549-60.

PMID:
12045208
8.

Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis.

Hu PJ, Knoepp SM, Wu R, Cho KR.

Genes Chromosomes Cancer. 2012 Mar;51(3):283-9. doi: 10.1002/gcc.20953. Epub 2011 Nov 25.

9.

APC germline mutations in families with familial adenomatous polyposis.

De Queiroz Rossanese LB, De Lima Marson FA, Ribeiro JD, Coy CS, Bertuzzo CS.

Oncol Rep. 2013 Nov;30(5):2081-8. doi: 10.3892/or.2013.2681. Epub 2013 Aug 21.

PMID:
23970361
10.

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.

11.

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T Jr.

J Cancer Res Clin Oncol. 2009 Oct;135(10):1463-70. doi: 10.1007/s00432-009-0594-4. Epub 2009 May 15. Erratum in: J Cancer Res Clin Oncol. 2009 Oct;135(10):1471. Eklo, Kristin [corrected to Eklo, Katrine].

PMID:
19444466
12.

Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis.

Pavicic W, Nieminen TT, Gylling A, Pursiheimo JP, Laiho A, Gyenesei A, Järvinen HJ, Peltomäki P.

Genes Chromosomes Cancer. 2014 Oct;53(10):857-64. doi: 10.1002/gcc.22197. Epub 2014 Jun 20.

PMID:
24946964
13.

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I.

Nat Med. 1999 Sep;5(9):1071-5.

PMID:
10470088
14.

Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: report of a case.

Hosogi H, Nagayama S, Kanamoto N, Yoshizawa A, Suzuki T, Nakao K, Sakai Y.

Jpn J Clin Oncol. 2009 Dec;39(12):837-46. doi: 10.1093/jjco/hyp093. Epub 2009 Aug 14.

PMID:
19684041
15.

A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.

Jiang SS, Li JJ, Li Y, He LJ, Wang QJ, Weng DS, Pan K, Liu Q, Zhao JJ, Pan QZ, Zhang XF, Tang Y, Chen CL, Zhang HX, Xu GL, Zeng YX, Xia JC.

Oncotarget. 2015 Sep 29;6(29):27267-74. doi: 10.18632/oncotarget.4776.

16.

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC.

J Exp Clin Cancer Res. 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4.

17.

Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.

Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I.

Am J Pathol. 2002 Jun;160(6):2055-61.

18.

Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis.

Norheim Andersen S, Løvig T, Fausa O, Rognum TO.

Scand J Gastroenterol. 1999 Jun;34(6):611-7.

PMID:
10440612
19.

Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.

Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP.

Oncogene. 2003 Jul 3;22(27):4257-65.

PMID:
12833148
20.

Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic adenoma, cancer, and familial adenomatous polyposis.

Takayama T, Ohi M, Hayashi T, Miyanishi K, Nobuoka A, Nakajima T, Satoh T, Takimoto R, Kato J, Sakamaki S, Niitsu Y.

Gastroenterology. 2001 Sep;121(3):599-611.

PMID:
11522744

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