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A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
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SYSNO ASEP 0453206 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient Author(s) Vodička, Pavel (UEM-P) RID
Caja, F. (CZ)
Vymetálková, Veronika (UEM-P) RID
Procházka, Pavel (UEM-P) RID
Vodičková, Ludmila (UEM-P) RID
Schwarzová, L. (CZ)
Slyšková, Jana (UEM-P) RID
Kumar, R. (DE)
Schneiderová, M. (CZ)Number of authors 9 Source Title Oncology Letters. - : Spandidos Publications - ISSN 1792-1074
Roč. 9, č. 1 (2015), s. 183-186Number of pages 4 s. Language eng - English Country GR - Greece Keywords mutL homolog 1 ; germline mutation ; colorectal cancer Subject RIV EB - Genetics ; Molecular Biology R&D Projects GPP304/11/P715 GA ČR - Czech Science Foundation (CSF) GAP304/12/1585 GA ČR - Czech Science Foundation (CSF) Institutional support UEM-P - RVO:68378041 UT WOS 000346638300031 EID SCOPUS 84911459103 DOI https://doi.org/10.3892/ol.2014.2666 Annotation Mutations in the mutL homolog 1 (MLH1) gene are frequent in patients with hereditary non-polyposis colorectal cancer (CRC). The MLH1 gene was screened for mutations in patients with sporadic CRC. The nucleotide sequences for all 19 exons of MLH1 were analyzed by high resolution melting and sequenced in a group of 104 sporadic CRC patients, and the results were verified in a replication group of 1,095 patients and 1,469 controls. Different melting profiles for exon 2 of the MLH1 gene were observed in the germline DNA of one patient. Sequencing of the patient's DNA resulted in the identification of a heterozygous C>G variant at c.204, which resulted in an Ile68Met change in the amino acid. A detailed search of the National Center for Biotechnology Information and the 1000 Genomes databases indicated that the detected variant was unique. According to the SIFT and PolyPhen-2 algorithms, the substitution of Ile to Met was predicted to decrease the activity of the MLH1 protein. The newly identified, functional germline variant was not present in any other CRC patient or control. Thus, a novel germline variant in the MLH1 gene was identified, representing a rare event in sporadic CRC. The occurrence and relevance of this mutation in other types of cancer requires additional investigation. Workplace Institute of Experimental Medicine Contact Arzuv Čaryjeva, arzuv.caryjeva@iem.cas.cz, Tel.: 241 062 218, 296 442 218 Year of Publishing 2016
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