Familial adenomatous polyposis: from bedside to benchside.

Hdl Handle:
http://hdl.handle.net/10147/209192
Title:
Familial adenomatous polyposis: from bedside to benchside.
Authors:
O'Sullivan, M J; McCarthy, T V; Doyle, C T
Affiliation:
Department of Pathology, Cork University Hospital, Ireland.
Citation:
Am J Clin Pathol. 1998 May;109(5):521-6.
Journal:
American journal of clinical pathology
Issue Date:
3-Feb-2012
URI:
http://hdl.handle.net/10147/209192
PubMed ID:
9576568
Abstract:
Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.
Language:
eng
MeSH:
Adenomatous Polyposis Coli/*genetics; Adenomatous Polyposis Coli Protein; Chromosomes, Human, Pair 5; Cytoskeletal Proteins/genetics; Genes, APC; Humans; Mutation; *Trans-Activators; alpha Catenin; beta Catenin
ISSN:
0002-9173 (Print); 0002-9173 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorO'Sullivan, M Jen_GB
dc.contributor.authorMcCarthy, T Ven_GB
dc.contributor.authorDoyle, C Ten_GB
dc.date.accessioned2012-02-03T15:14:42Z-
dc.date.available2012-02-03T15:14:42Z-
dc.date.issued2012-02-03T15:14:42Z-
dc.identifier.citationAm J Clin Pathol. 1998 May;109(5):521-6.en_GB
dc.identifier.issn0002-9173 (Print)en_GB
dc.identifier.issn0002-9173 (Linking)en_GB
dc.identifier.pmid9576568en_GB
dc.identifier.urihttp://hdl.handle.net/10147/209192-
dc.description.abstractFamilial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.en_GB
dc.language.isoengen_GB
dc.subject.meshAdenomatous Polyposis Coli/*geneticsen_GB
dc.subject.meshAdenomatous Polyposis Coli Proteinen_GB
dc.subject.meshChromosomes, Human, Pair 5en_GB
dc.subject.meshCytoskeletal Proteins/geneticsen_GB
dc.subject.meshGenes, APCen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMutationen_GB
dc.subject.mesh*Trans-Activatorsen_GB
dc.subject.meshalpha Cateninen_GB
dc.subject.meshbeta Cateninen_GB
dc.titleFamilial adenomatous polyposis: from bedside to benchside.en_GB
dc.contributor.departmentDepartment of Pathology, Cork University Hospital, Ireland.en_GB
dc.identifier.journalAmerican journal of clinical pathologyen_GB
dc.description.provinceMunster-

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