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Article

Molecular genetic evidence for the delineation of a more severe form of familial adenomatous polyposis which results from fresh mutation.

Annals of human genetics - 1 May 1993

Rees M, Leigh S E, Delhanty J D, Bowles L, Talbot I C

Abstract excerpt

Familial adenomatous polyposis, an inherited pre-malignant condition, is caused by mutation in the adenomatous polyposis coli (APC) gene at chromosome 5q22. The lifetime risk of carcinoma approaches 100%, with an average age at death from cancer of 40 years, allowing most patients to complete reproduction. Since there is no evidence for a rising incidence, this is at variance with an apparently high mutation...

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Source

Identifiers

PMID: 8396383
DOI: 10.1111/j.1469-1809.1993.tb00891.x

Genes

APC

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

Molecular genetic evidence for the delineation of a more severe form of familial adenomatous polyposis which results from fresh mutation.PMID 8396383Read ↗

Frequent normal allele loss and maternal origin of the mutation shown by DNA homoduplex analysis in a severely affected patient with adenomatous polyposis coli.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.Semantic proximity Read ↗

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.Semantic proximity Read ↗

A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis.Semantic proximity Read ↗

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.Semantic proximity Read ↗

Recurrent deletions at 6q in early age of onset non-HNPCC- and non-FAP-associated intestinal carcinomas. Evidence for a novel cancer susceptibility locus at 6q14-q22.Semantic proximity Read ↗

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.Semantic proximity Read ↗

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.Semantic proximity Read ↗

Improved predictive carrier testing for familial adenomatous polyposis using DNA from a single archival specimen and polymorphic markers with multiple alleles.Semantic proximity Read ↗

APC mutation associated with late onset of familial adenomatous polyposis.Semantic proximity Read ↗

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