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- Title
APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation.
- Authors
Agostini, Marco; Bedin, Chiara; Pucciarelli, Salvatore; Enzo, Mariavittoria; Briarava, Marta; Seraglia, Roberta; Ragazzi, Eugenio; Traldi, Pietro; Molin, Laura; Urso, Emanuele Damiano; Mammi, Isabella; Viel, Alessandra; Lise, Mario; Tasciotti, Ennio; Biasiolo, Alessandra; Pontisso, Patrizia; Nitti, Donato
- Abstract
Germline nonsense and frameshift mutations in the adenomatous polyposis coli (APC) gene are found in approximately 90% of individuals affected by familial adenomatous polyposis (FAP) and a genotype-phenotype relationship has been observed. Missense mutations have also been found in a few cases, even if their role in FAP is still unknown. An association between a missense mutation, APC I1307K, and the risk of sporadic colorectal cancer (CRC) has been reported. In order to improve the knowledge about the genetic effect of APC I1307K on the phenotype, we tried a new approach using matrix-assisted laser desorption/ionization mass spectrometry (MALDI/MS).
- Publication
The International journal of biological markers, 2012, Vol 27, Issue 1, p13
- ISSN
1724-6008
- Publication type
Journal Article
- DOI
10.5301/JBM.2011.8908