Identification and characterization of the familial adenomatous polyposis coli gene

Groden, Joanna; Thliveris, Andrew; Samowitz, Wade S.; Carlson, Margaret; Gelbert, Lawrence M.; Albertsen, Hans; Joslyn, Geoff; Stevens, Jeff; Spirio, Lisa; Robertson, Margaret; Sargeant, L S; Krapcho, K.; Wolff, Erika M.; Burt, Randall W.; Hughes, Jaime; Warrington, Janet A.; Mcpherson, John Douglas; Wasmuth, John J.; Paslier, Denis Le; Abderrahim, Hadi; Cohen, Daniel; Leppert, M.; White, Ray

doi:10.1016/0092-8674(81)90021-0

Cited by 2,506 publications

(1,331 citation statements)

References 22 publications

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“…Some PCR reactions of diluted DNA contained none or only one band, although PCR reaction of undiluted DNA always showed two normal bands. PCR products with abnormal mobilities were present in 4, 5, 6, 7, 8, 11, 15th and 16th lanes of the PCR products (from the left) in the case of Turcot patient, but the abnormal bands were not detected in 13 PCR reaction products in the case of HNPCC patient with hMSH2 germline mutation, nor in 16 PCR reactions in the case of HNPCC patient with hMLH1 germline mutation Primers and conditions for PCR, SSCP and direct sequencing in mutation analyses were those previously reported: hMSH3 and hMSH6 (Malkosyan et al, 1996); TGFbRII (Konishi et al, 1996); BAX (Rampino et al, 1997); E2F-4 (Yoshitaka et al, 1996); APC (Groden et al, 1991); p53 (Kikuchi-Yanoshita et al 1992). a As, Astrocytoma; CoAd, Colon adenoma; CoCa, carcinoma.…”

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confidence: 62%

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

et al. 1997

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confidence: 62%

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

et al. 1997

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“…Recently, the genes responsible for both familial adenomatous polyposis and hereditary non-polyposis colon carcinoma have been identified (Kinzler et al, 1991;Groden et al, 1991;Altonen et al, 1993;Ionov et al, 1993 p53 mutated cases represent exposures that are important for promotion or progression rather than initiation of the carcinogenic process. Recent studies also show a remarkably specific interaction between certain environmental carcinogens and mutational patterns in the p53-gene (Greenblatt et al, 1994).…”

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confidence: 99%

A pilot study on risk factors and p53 gene expression in colorectal cancer

Fredrikson

Axelson²,

Sun³

et al. 1996

Br J Cancer

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Summary Of 311 colorectal cancers diagnosed in 1984-86 in the county of Ostergotland, Sweden, 179 were included in a case-control study, and, of these, 70 were investigated using immunohistochemical staining for p53 gene mutations. Alcohol use as well as medication with hydralazine-containing antihypertensive drugs, but not heredity were associated with p53 staining. The study is offered to illustrate the possible value of investigating molecularly defined tumour subtypes in relation to specific risk factors.

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“…One of the hereditary forms of colorectal cancer is the familial adenomatous polyposis (FAP), an autosomal dominant inherited disease affecting 1 out of 5000 in the population. The candidate tumoursuppressor gene designated APC and located on chromosome 5q21 has been implicated in the development of FAP (Groden et al, 1991;Kinzler et al, 1992;Smith et al, 1993). The APC gene product is a cytoplasmic protein located at the basolateral margins of the epithelial cells (Smith et al, 1993).…”

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Progression of familial adenomatous polyposis (FAP) colonic cells after transfer of the src or polyoma middle T oncogenes: cooperation between src and HGF/Met in invasion

et al. 1997

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Summary Little is known about the the signalling pathways driving the adenoma-to-carcinoma sequence in human colonic epithelial cells. Accumulation and activation of the src tyrosine kinase in colon cancer suggest a potential role of this oncogene in this early progression. Therefore, we introduced either activated src (m-src), polyoma-MT alone or combined with normal c-src in the adenoma PC/AA/C1 cell line (PC) to define the function and phenotypic transformations induced by these oncogenes in familial adenomatous polyposis (FAP) colonic epithelial cells. Functional expression of these oncoproteins induced the adenoma-to-carcinoma conversion, overexpression of the hepatocyte growth factor (HGF) receptor Met, but failed to confer invasiveness in vivo and in vitro, or to produce alterations in cell proliferation and differentiation. In contrast, PC-msrc cells became susceptible to the HGF-induced invasion of collagen gels and exhibited sustained activation of the pp6osrctyrosine kinase and Tyr phosphorylation of the 120-kDa E-cadherin, which was further increased by HGF Transcripts of HGF were clearly identified by reverse transcription -polymerase chain reaction (RT-PCR) and Southern blot in the parental and transformed PC cells, suggesting an autocrine mechanism. Taken together, the data indicate that: (1) experimental activation of src and PyMT pathways directly induces tumorigenicity and Met upregulation in a colon adenoma cell line; (2) HGF-activated Met and src cooperate in inducing invasion; (3) in view of the molecular associations between catenins and cadherin or the tumour-suppressor gene product APC, the cell adhesion molecule E-cadherin may constitute a downstream effector of src and Met.

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Identification and characterization of the familial adenomatous polyposis coli gene

Cited by 2,506 publications

References 22 publications

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

A pilot study on risk factors and p53 gene expression in colorectal cancer

Progression of familial adenomatous polyposis (FAP) colonic cells after transfer of the src or polyoma middle T oncogenes: cooperation between src and HGF/Met in invasion

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