Lynch syndrome genetics and clinical implications
dc.contributor.author | Peltomäki, Päivi | |
dc.contributor.author | Nyström, Minna | |
dc.contributor.author | Mecklin, Jukka-Pekka | |
dc.contributor.author | Seppälä, Toni, T. | |
dc.date.accessioned | 2023-04-06T09:27:35Z | |
dc.date.available | 2023-04-06T09:27:35Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Peltomäki, P., Nyström, M., Mecklin, J.-P., & Seppälä, T. (2023). Lynch syndrome genetics and clinical implications. <i>Gastroenterology</i>, <i>164</i>(5), 783-799. <a href="https://doi.org/10.1053/j.gastro.2022.08.058" target="_blank">https://doi.org/10.1053/j.gastro.2022.08.058</a> | |
dc.identifier.other | CONVID_176754087 | |
dc.identifier.uri | https://jyx.jyu.fi/handle/123456789/86297 | |
dc.description.abstract | Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in man and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10–15% of those with DNA mismatch repair (MMR)-deficient tumors. Previous studies have established the genetic basis of LS predisposition, but there have been significant advances recently in the understanding of the molecular pathogenesis of LS tumors, which has important implications in clinical management. At the same time, immunotherapy has revolutionized the treatment of advanced cancers with MMR defects. We aim to review the recent progress in the LS field and discuss how the accumulating epidemiological, clinical, and molecular information have contributed to a more accurate and complete picture of LS, resulting in genotype- and immunological subtype-specific strategies for surveillance, cancer prevention, and treatment. | en |
dc.format.mimetype | application/pdf | |
dc.language.iso | eng | |
dc.publisher | Elsevier BV | |
dc.relation.ispartofseries | Gastroenterology | |
dc.rights | CC BY 4.0 | |
dc.subject.other | Lynch syndrome | |
dc.subject.other | genetics | |
dc.title | Lynch syndrome genetics and clinical implications | |
dc.type | research article | |
dc.identifier.urn | URN:NBN:fi:jyu-202304062428 | |
dc.contributor.laitos | Liikuntatieteellinen tiedekunta | fi |
dc.contributor.laitos | Faculty of Sport and Health Sciences | en |
dc.type.uri | http://purl.org/eprint/type/JournalArticle | |
dc.type.coar | http://purl.org/coar/resource_type/c_2df8fbb1 | |
dc.description.reviewstatus | peerReviewed | |
dc.format.pagerange | 783-799 | |
dc.relation.issn | 0016-5085 | |
dc.relation.numberinseries | 5 | |
dc.relation.volume | 164 | |
dc.type.version | publishedVersion | |
dc.rights.copyright | © 2023 The Author(s). Published by Elsevier Inc. on behalf of the AGA Institute. | |
dc.rights.accesslevel | openAccess | fi |
dc.type.publication | article | |
dc.subject.yso | kliininen lääketiede | |
dc.subject.yso | perinnöllisyyslääketiede | |
dc.subject.yso | perinnölliset taudit | |
dc.subject.yso | Lynchin oireyhtymä | |
dc.subject.yso | paksusuolisyöpä | |
dc.subject.yso | syöpätaudit | |
dc.format.content | fulltext | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p25942 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p4427 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p19997 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p23697 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p5937 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p678 | |
dc.rights.url | https://creativecommons.org/licenses/by/4.0/ | |
dc.relation.doi | 10.1053/j.gastro.2022.08.058 | |
jyx.fundinginformation | Grant support: Supported by grants from the Jane and Aatos Erkko Foundation (PP, MN, J-PM, TTS), the Academy of Finland (grant number 330606 to PP), Cancer Foundation Finland sr (PP, J-PM, TTS), and the Sigrid Juselius Foundation (PP, TTS). | |
dc.type.okm | A1 |
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