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Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis : a plea for the protein truncation test
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 1194552
Author(s) Necker, Judith; Kovac, Michal; Attenhofer, Michèle; Reichlin, Bruno; Heinimann, Karl
Author(s) at UniBasel Heinimann, Karl
Year 2011
Title Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis : a plea for the protein truncation test
Journal Journal of medical genetics
Volume 48
Number 8
Pages / Article-Number 526-9
Abstract Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited colorectal cancer predisposition caused by germ line mutations in the APC (adenomatous polyposis coli) gene. Current recommendations for APC mutation analysis advise full gene sequencing to identify point mutations and small insertions/deletions as well as the multiplex ligation dependent probe amplification (MLPA) technique to detect gene dosage alterations. Use of the protein truncation test (PTT) as a pre-screening tool has thus been largely replaced with direct end-to-end sequencing, mainly because of its limited sensitivity and failure to identify APC missense alterations.
Publisher British Medical Association
ISSN/ISBN 0022-2593
edoc-URL http://edoc.unibas.ch/dok/A6004766
Full Text on edoc No
Digital Object Identifier DOI 10.1136/jmg.2011.089474
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/21653199
ISI-Number WOS:000292958800005
Document type (ISI) Journal Article
 
   

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