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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	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
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2000

Ижил төстэй зүйлс

APC mutations are sufficient for the growth of early colorectal adenomas.
-н: Lamlum, H, зэрэг
Хэвлэсэн: (2000)

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
-н: Frayling, I, зэрэг
Хэвлэсэн: (1998)

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
-н: Sieber, O, зэрэг
Хэвлэсэн: (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.
-н: Lamlum, H, зэрэг
Хэвлэсэн: (1999)

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.
-н: Sieber, O, зэрэг
Хэвлэсэн: (2000)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
-н: Thirlwell, C, зэрэг
Хэвлэсэн: (2007)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
-н: Sieber, O, зэрэг
Хэвлэсэн: (2002)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
-н: Sieber, O, зэрэг
Хэвлэсэн: (2002)

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
-н: Beck, N, зэрэг
Хэвлэсэн: (1997)

APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits".
-н: Rowan, A, зэрэг
Хэвлэсэн: (2000)

Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.
-н: Haines, J, зэрэг
Хэвлэсэн: (2005)

Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
-н: Harvey, J, зэрэг
Хэвлэсэн: (2008)

Germline epimutations of APC are not associated with inherited colorectal polyposis.
-н: Hitchins, M, зэрэг
Хэвлэсэн: (2006)

Germline mutations in the mismatch repair genes hMLH1 and hMSH2 may predispose to the formation of multiple adenomatous polyps
-н: Fearnhead, N, зэрэг
Хэвлэсэн: (2002)

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
-н: Homfray, T, зэрэг
Хэвлэсэн: (1998)

Location in the large bowel influences the APC mutations observed in FAP adenomas.
-н: Will, O, зэрэг
Хэвлэсэн: (2010)

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
-н: Beck, N, зэрэг
Хэвлэсэн: (1997)

APC and the three-hit hypothesis.
-н: Segditsas, S, зэрэг
Хэвлэсэн: (2009)

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
-н: Halford, SE, зэрэг
Хэвлэсэн: (2003)

Germline Missense Changes in the APC Gene and Their Relationship to Disease
-н: Scott Rodney J, зэрэг
Хэвлэсэн: (2004-05-01)

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

The ABC of APC.
-н: Fearnhead, N, зэрэг
Хэвлэсэн: (2001)

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.
-н: Hao, X, зэрэг
Хэвлэсэн: (2002)

The C-terminus of Apc does not influence intestinal adenoma development or progression
-н: Lewis, A, зэрэг
Хэвлэсэн: (2012)

The C-terminus of Apc does not influence intestinal adenoma development or progression.
-н: Lewis, A, зэрэг
Хэвлэсэн: (2012)

Germline PTEN mutations in Cowden syndrome-like families.
-н: Marsh, D, зэрэг
Хэвлэсэн: (1998)

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

Loss of heterozygosity at APC and beta-catenin expression in sporadic colorectal carcinogenesis
-н: Hao, X, зэрэг
Хэвлэсэн: (1998)

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
-н: Sturt, N, зэрэг
Хэвлэсэн: (2004)

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

APC protein immunoexpression in colorectal adenoma and adenocarcinoma
-н: Vivian Sati Oba Bourroul, зэрэг
Хэвлэсэн: (2013-07-01)

Familial adenomatous polyposis (FAP) and its gene, APC.
-н: Bodmer, W
Хэвлэсэн: (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.
-н: Crabtree, M, зэрэг
Хэвлэсэн: (2003)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
-н: Livia Preisler, зэрэг
Хэвлэсэн: (2021-03-01)

Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.
-н: Lipton, L, зэрэг
Хэвлэсэн: (2003)

Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
-н: Sieber, O, зэрэг
Хэвлэсэн: (2003)

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
-н: Tomlinson, I, зэрэг
Хэвлэсэн: (2002)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice.
-н: Elahi, E, зэрэг
Хэвлэсэн: (2009)

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom 1R ApcMin/+ mice
-н: Elahi, E, зэрэг
Хэвлэсэн: (2009)

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.
-н: Frayling, I, зэрэг
Хэвлэсэн: (1997)