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Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

Zauber P, Bishop T, Taylor C, Sabbath-Solitare M, Marotta S, Tomlinson I.

PLoS One. 2014 Jan 9;9(1):e84498. doi: 10.1371/journal.pone.0084498. eCollection 2014.


Somatic instability of the APC I1307K allele in colorectal neoplasia.

Gryfe R, Di Nicola N, Gallinger S, Redston M.

Cancer Res. 1998 Sep 15;58(18):4040-3.


Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.

Zauber NP, Sabbath-Solitare M, Marotta S, Zauber AG, Foulkes W, Chan M, Turner F, Bishop DT.

Cancer. 2005 Aug 15;104(4):719-29.


How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.

Dundar M, Caglayan AO, Saatci C, Karaca H, Baskol M, Tahiri S, Ozkul Y.

Cancer Genet Cytogenet. 2007 Sep;177(2):95-7.


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.


Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?

Sieber O, Lipton L, Heinimann K, Tomlinson I.

J Pathol. 2003 Feb;199(2):137-9. Review.


Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.

Gryfe R, Di Nicola N, Lal G, Gallinger S, Redston M.

Am J Hum Genet. 1999 Feb;64(2):378-84.


The I1307K polymorphism of the APC gene in colorectal cancer.

Prior TW, Chadwick RB, Papp AC, Arcot AN, Isa AM, Pearl DK, Stemmermann G, Percesepe A, Loukola A, Aaltonen LA, De La Chapelle A.

Gastroenterology. 1999 Jan;116(1):58-63.


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.


The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, Talbot IC, Bodmer WF, Tomlinson IP.

Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10722-7.


Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP.

N Engl J Med. 2003 Feb 27;348(9):791-9.


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.


Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I.

Hum Mol Genet. 2000 Sep 22;9(15):2215-21.


APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation.

Agostini M, Bedin C, Pucciarelli S, Enzo M, Briarava M, Seraglia R, Ragazzi E, Traldi P, Molin L, Urso ED, Mammi I, Viel A, Lise M, Tasciotti E, Biasiolo A, Pontisso P, Nitti D.

Int J Biol Markers. 2012 Jan-Mar;27(1):13-9. doi: 10.5301/JBM.2011.8908.


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.


Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, et al.

Cancer Res. 1994 Jun 1;54(11):3011-20.


The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews.

Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, Tucker MA, Brody LC.

Nat Genet. 1998 Sep;20(1):62-5.


Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.

Syngal S, Schrag D, Falchuk M, Tung N, Farraye FA, Chung D, Wright M, Whetsell A, Miller G, Garber JE.

JAMA. 2000 Aug 16;284(7):857-60.


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.

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