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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 0507333 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient Tvůrce(i) Vodička, P. (CZ)
Čaja, Fabian (MBU-M) ORCID
Vymetálková, v. (CZ)
Procházka, P. (CZ)
Vodičková, L. (CZ)
Schwarzová, L. (CZ)
Slyšková, J. (CZ)
Kumar, R. (IN)
Schneiderová, M. (CZ)Zdroj.dok. Oncology Letters. - : Spandidos Publications - ISSN 1792-1074
Roč. 9, č. 1 (2015), s. 183-186Poč.str. 4 s. Jazyk dok. eng - angličtina Země vyd. GR - Řecko Klíč. slova MutL homolog 1 ; germline mutation ; colorectal cancer Vědní obor RIV EC - Imunologie Obor OECD Immunology Způsob publikování Open access Institucionální podpora MBU-M - RVO:61388971 UT WOS 000346638300031 EID SCOPUS 84911459103 DOI 10.3892/ol.2014.2666 Anotace 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. Pracoviště Mikrobiologický ústav Kontakt Eliška Spurná, eliska.spurna@biomed.cas.cz, Tel.: 241 062 231 Rok sběru 2020 Elektronická adresa https://www.spandidos-publications.com/10.3892/ol.2014.2666
Počet záznamů: 1