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dc.contributor.authorXavier, Alexandre
dc.contributor.authorOlsen, Maren Fridtjofsen
dc.contributor.authorLavik, Liss Ane
dc.contributor.authorJohansen, Jostein
dc.contributor.authorSingh, Ashish Kumar
dc.contributor.authorSjursen, Wenche
dc.contributor.authorScott, Rodney J.
dc.contributor.authorTalseth-Palmer, Bente Anita
dc.identifier.citationMolecular Genetics & Genomic Medicine. 2019, 7 (8), 1-10.nb_NO
dc.description.abstractAbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) associated cancer, where a causative variant was not identified during genetic testing for LS.Methods: Using data extracted from a larger gene panel, we have analyzed next‐generation sequencing data from 22 mismatch repair (MMR) genes (MSH3, PMS1, MLH3, EXO1, POLD1, POLD3 RFC1, RFC2, RFC3, RFC4, RFC5, PCNA, LIG1, RPA1, RPA2, RPA3, POLD2, POLD4, MLH1, MSH2, MSH6, and PMS2) in 274 LLS patients. Detected variants were annotated and filtered using ANNOVAR and FILTUS software.Results: Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS. Five additional genes (EXO1, POLD1, RFC1, RPA1, and MLH3) were found to harbor 11 variants of unknown significance in our sample cohort, two of them being frameshift variants.Conclusion: We have shown that other genes associated with the process of DNA MMR have a high probability of being associated with LLS families. These findings indicate that the spectrum of genes that should be tested when considering an entity like Lynch‐like syndrome should be expanded so that a more inclusive definition of this entity can be developed.nb_NO
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internasjonal*
dc.titleComprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndromenb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.source.journalMolecular Genetics & Genomic Medicinenb_NO
dc.description.localcodeThis is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. DOI: 10.1002/mgg3.850nb_NO
cristin.unitnameLaboratoriemedisinsk klinikk
cristin.unitnameInstitutt for klinisk og molekylær medisin

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Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal
Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal