Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

doi:10.1002/jcla.23768

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Article

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal of clinical laboratory analysis - 1 May 2021

Ghadamyari Faranak, Heidari Mohammad Mehdi, Zeinali Sirous, Khatami Mehri, Merat Shahin, Bagherian Hamideh, Rejali Leili, Ghasemi Farzaneh

Abstract excerpt

BACKGROUND: Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal-dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis. METHODS: The genetic screening of 59 FAP Iranian patients in 10...

Topics

Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Adolescent
Adult
Base Sequence
Child
Codon, Nonsense
Colonoscopy
Computational Biology
DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Genetic Association Studies

Genetic Linkage

Genetic Predisposition to Disease

Genetic Testing

Germ-Line Mutation

Haplotypes

Humans

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Identifiers

PMID: 33769591
DOI: 10.1002/jcla.23768
PMCID: PMC8128300

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