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Hereditary Desmoid Disease in a Family with a Germline Alu I Repeat Mutation of the APC Gene

1 Jan 1999

Abstract excerpt

Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of...

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PMID: 10077730
DOI: 10.1159/000022852

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Related research

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Research trail→

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Hereditary Desmoid Disease in a Family with a Germline Alu I Repeat Mutation of the APC GenePMID 10077730Read ↗

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.Semantic proximity Read ↗

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APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis.Semantic proximity Read ↗

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.Semantic proximity Read ↗

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.Semantic proximity Read ↗

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.Semantic proximity Read ↗

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.Semantic proximity Read ↗

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.Semantic proximity Read ↗

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Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors.Semantic proximity Read ↗

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