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

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

Mendelian tumour syndromes are caused by rare mutations, which usually lead to protein inactivation. Few studies have determined whether or not the same genes harbour other, more common variants, which might have a lower penetrance and/or cause mild disease, perhaps indistinguishable from sporadic d...

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מידע ביבליוגרפי
Main Authors:	Lamlum, H, Al Tassan, N, Jaeger, E, Frayling, I, Sieber, O, Reza, F, Eckert, M, Rowan, A, Barclay, E, Atkin, W, Williams, C, Gilbert, J, Cheadle, J, Bell, J, Houlston, R, Bodmer, W, Sampson, J, Tomlinson, I
פורמט:	Journal article
שפה:	English
יצא לאור:	2000

פריטים דומים

APC mutations are sufficient for the growth of early colorectal adenomas.
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יצא לאור: (2000)

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
מאת: Frayling, I, et al.
יצא לאור: (1998)

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
מאת: Sieber, O, et al.
יצא לאור: (2002)

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.
מאת: Lamlum, H, et al.
יצא לאור: (1999)

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.
מאת: Sieber, O, et al.
יצא לאור: (2000)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
מאת: Thirlwell, C, et al.
יצא לאור: (2007)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
מאת: Sieber, O, et al.
יצא לאור: (2002)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
מאת: Sieber, O, et al.
יצא לאור: (2002)

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
מאת: Beck, N, et al.
יצא לאור: (1997)

APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits".
מאת: Rowan, A, et al.
יצא לאור: (2000)

Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.
מאת: Haines, J, et al.
יצא לאור: (2005)

Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
מאת: Harvey, J, et al.
יצא לאור: (2008)

Germline epimutations of APC are not associated with inherited colorectal polyposis.
מאת: Hitchins, M, et al.
יצא לאור: (2006)

Germline mutations in the mismatch repair genes hMLH1 and hMSH2 may predispose to the formation of multiple adenomatous polyps
מאת: Fearnhead, N, et al.
יצא לאור: (2002)

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
מאת: Homfray, T, et al.
יצא לאור: (1998)

Location in the large bowel influences the APC mutations observed in FAP adenomas.
מאת: Will, O, et al.
יצא לאור: (2010)

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
מאת: Beck, N, et al.
יצא לאור: (1997)

APC and the three-hit hypothesis.
מאת: Segditsas, S, et al.
יצא לאור: (2009)

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
מאת: Halford, SE, et al.
יצא לאור: (2003)

Germline Missense Changes in the APC Gene and Their Relationship to Disease
מאת: Scott Rodney J, et al.
יצא לאור: (2004-05-01)

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.
מאת: Lipton, L, et al.
יצא לאור: (2003)

The ABC of APC.
מאת: Fearnhead, N, et al.
יצא לאור: (2001)

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.
מאת: Hao, X, et al.
יצא לאור: (2002)

The C-terminus of Apc does not influence intestinal adenoma development or progression
מאת: Lewis, A, et al.
יצא לאור: (2012)

The C-terminus of Apc does not influence intestinal adenoma development or progression.
מאת: Lewis, A, et al.
יצא לאור: (2012)

Germline PTEN mutations in Cowden syndrome-like families.
מאת: Marsh, D, et al.
יצא לאור: (1998)

A violação de Britânico (Tac. Ann. 13.17) = Britannicus’ Rape (Tac. Ann. 13.17)
מאת: Nuno Simões Rodrigues
יצא לאור: (2020-11-01)

Loss of heterozygosity at APC and beta-catenin expression in sporadic colorectal carcinogenesis
מאת: Hao, X, et al.
יצא לאור: (1998)

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
מאת: Sturt, N, et al.
יצא לאור: (2004)

Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice.
מאת: Segditsas, S, et al.
יצא לאור: (2008)

APC protein immunoexpression in colorectal adenoma and adenocarcinoma
מאת: Vivian Sati Oba Bourroul, et al.
יצא לאור: (2013-07-01)

Familial adenomatous polyposis (FAP) and its gene, APC.
מאת: Bodmer, W
יצא לאור: (1999)

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.
מאת: Crabtree, M, et al.
יצא לאור: (2003)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
מאת: Livia Preisler, et al.
יצא לאור: (2021-03-01)

Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.
מאת: Lipton, L, et al.
יצא לאור: (2003)

Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
מאת: Sieber, O, et al.
יצא לאור: (2003)

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
מאת: Tomlinson, I, et al.
יצא לאור: (2002)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice.
מאת: Elahi, E, et al.
יצא לאור: (2009)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom 1R ApcMin/+ mice
מאת: Elahi, E, et al.
יצא לאור: (2009)

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.
מאת: Frayling, I, et al.
יצא לאור: (1997)