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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	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
التنسيق:	Journal article
اللغة:	English
منشور في:	2000

مواد مشابهة

APC mutations are sufficient for the growth of early colorectal adenomas.
حسب: Lamlum, H, وآخرون
منشور في: (2000)

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
حسب: Frayling, I, وآخرون
منشور في: (1998)

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
حسب: Sieber, O, وآخرون
منشور في: (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.
حسب: Lamlum, H, وآخرون
منشور في: (1999)

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.
حسب: Sieber, O, وآخرون
منشور في: (2000)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
حسب: Thirlwell, C, وآخرون
منشور في: (2007)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
حسب: Sieber, O, وآخرون
منشور في: (2002)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
حسب: Sieber, O, وآخرون
منشور في: (2002)

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
حسب: Beck, N, وآخرون
منشور في: (1997)

APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits".
حسب: Rowan, A, وآخرون
منشور في: (2000)

Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.
حسب: Haines, J, وآخرون
منشور في: (2005)

Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
حسب: Harvey, J, وآخرون
منشور في: (2008)

Germline epimutations of APC are not associated with inherited colorectal polyposis.
حسب: Hitchins, M, وآخرون
منشور في: (2006)

Germline mutations in the mismatch repair genes hMLH1 and hMSH2 may predispose to the formation of multiple adenomatous polyps
حسب: Fearnhead, N, وآخرون
منشور في: (2002)

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
حسب: Homfray, T, وآخرون
منشور في: (1998)

Location in the large bowel influences the APC mutations observed in FAP adenomas.
حسب: Will, O, وآخرون
منشور في: (2010)

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
حسب: Beck, N, وآخرون
منشور في: (1997)

APC and the three-hit hypothesis.
حسب: Segditsas, S, وآخرون
منشور في: (2009)

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
حسب: Halford, SE, وآخرون
منشور في: (2003)

Germline Missense Changes in the APC Gene and Their Relationship to Disease
حسب: Scott Rodney J, وآخرون
منشور في: (2004-05-01)

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.
حسب: Lipton, L, وآخرون
منشور في: (2003)

The ABC of APC.
حسب: Fearnhead, N, وآخرون
منشور في: (2001)

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.
حسب: Hao, X, وآخرون
منشور في: (2002)

The C-terminus of Apc does not influence intestinal adenoma development or progression
حسب: Lewis, A, وآخرون
منشور في: (2012)

The C-terminus of Apc does not influence intestinal adenoma development or progression.
حسب: Lewis, A, وآخرون
منشور في: (2012)

Germline PTEN mutations in Cowden syndrome-like families.
حسب: Marsh, D, وآخرون
منشور في: (1998)

A violação de Britânico (Tac. Ann. 13.17) = Britannicus’ Rape (Tac. Ann. 13.17)
حسب: Nuno Simões Rodrigues
منشور في: (2020-11-01)

Loss of heterozygosity at APC and beta-catenin expression in sporadic colorectal carcinogenesis
حسب: Hao, X, وآخرون
منشور في: (1998)

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
حسب: Sturt, N, وآخرون
منشور في: (2004)

Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice.
حسب: Segditsas, S, وآخرون
منشور في: (2008)

APC protein immunoexpression in colorectal adenoma and adenocarcinoma
حسب: Vivian Sati Oba Bourroul, وآخرون
منشور في: (2013-07-01)

Familial adenomatous polyposis (FAP) and its gene, APC.
حسب: Bodmer, W
منشور في: (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.
حسب: Crabtree, M, وآخرون
منشور في: (2003)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
حسب: Livia Preisler, وآخرون
منشور في: (2021-03-01)

Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.
حسب: Lipton, L, وآخرون
منشور في: (2003)

Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
حسب: Sieber, O, وآخرون
منشور في: (2003)

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
حسب: Tomlinson, I, وآخرون
منشور في: (2002)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice.
حسب: Elahi, E, وآخرون
منشور في: (2009)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom 1R ApcMin/+ mice
حسب: Elahi, E, وآخرون
منشور في: (2009)

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.
حسب: Frayling, I, وآخرون
منشور في: (1997)