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Three novel germline mutations in the adenomatous polyposis coli gene

โœ Scribed by Maria I. Scarano; Marina De Rosa; Maurizio Gentile; Luigi Bucci; Giuseppe P. Ferulano; Nicola Carlomagno; Andrea Renda; Ginevra Guanti; Francesco Salvatore; Paola Izzo


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
105 KB
Volume
9
Category
Article
ISSN
1059-7794

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## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with

Three germline mutations in the TP53 gen
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Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was foun

Germline mutations are frequent in the A
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Inactivation of the adenomatous polyposis coli (APC) gene has been shown to initiate the majority of colorectal cancer (CRC), including a familial form called familial adenomatous polyposis (FAP). One consequence of the APC mutation is the activation of the โค-catenin (CTNNB1)/T-cell transcription fa

Infrequent somatic mutation of the adeno
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## Background: The authors examined somatic mutations of the adenomatous polyposis coli (apc) gene in 84 human aberrant crypt foci (acf) to determine whether apc gene mutations were involved in the histologic progression of acf. ## Methods: Mutation cluster regions of the apc gene were subjected