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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? by Nuria Gómez-Fernández; Sergi Castellví-Bel; Ceres Fernández-Rozadilla; Francesc Balaguer; Jenifer Muñoz; Irene Madrigal; Montserrat Milà; Begoña Graña; Ana Vega; Antoni Castells; Ángel Carracedo; Clara Ruiz-Ponte is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? about?
## Abstract ## Background Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the __APC__ gene. Recently, biallelic mutations in __MUTYH__ have also been identified in patients with multiple colorectal adenomas and in __APC__-negative patients with FAP. The aim of this work is therefore to determine the frequency of __APC__ and __MUTYH__ mutations among FAP families from two Spanish populations. ## Methods Eighty-two unrelated patients with classical or attenuated FAP were screened for __APC__ germline mutations. __MUTYH__ analysis was then conducted in those __APC__-negative families and in 9 additional patients from a previous study. Direct sequencing, SSCP analysis and TaqMan genotyping were used to identify point and frameshift mutations, meanwhile large rearrangements in the __APC__ gene were screened by multiplex ligation-dependent probe amplification (MLPA). ## Results __APC__ germline mutations were found in 39% of the patients and, despite the great number of genetic variants described so far in this gene, seven new mutations were identified. The two hotspots at codons 1061 and 1309 of the __AP
Who reads Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations??
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Nuria Gómez-Fernández; Sergi Castellví-Bel; Ceres Fernández-Rozadilla; Francesc Balaguer; Jenifer Muñoz; Irene Madrigal; Montserrat Milà; Begoña Graña; Ana Vega; Antoni Castells; Ángel Carracedo; Clara Ruiz-Ponte
- Publisher
- BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)
- Published
- 2009
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)