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Article

Alleles of the APC gene: an attenuated form of familial polyposis.

Cell - 3 Dec 1993

Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B

Abstract excerpt

An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles responsible for this attenuated phenotype have been mapped in several families to the adenomatous polyposis coli (APC) locus on human chromosome 5q. Four distinct mutations in the APC gene have now been identified in seven AAPC families....

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Source

Identifiers

PMID: 8252630
DOI: 10.1016/0092-8674(93)90538-2

Genes

APC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

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Alleles of the APC gene: an attenuated form of familial polyposis.PMID 8252630Read ↗

Attenuated Familial Adenomatous PolyposisSemantic proximity Read ↗

Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC.Semantic proximity Read ↗

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.Semantic proximity Read ↗

Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.Semantic proximity Read ↗

Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.Semantic proximity Read ↗

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.Semantic proximity Read ↗

Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.Semantic proximity Read ↗

Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus.Semantic proximity Read ↗

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.Semantic proximity Read ↗

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.Semantic proximity Read ↗

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.Semantic proximity Read ↗

The farthest 3' distal end APC mutation identified in attenuated adenomatous polyposis coli with extracolonic manifestations.Semantic proximity Read ↗

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