A1 Journal article (refereed)
Lynch syndrome genetics and clinical implications (2023)
Peltomäki, P., Nyström, M., Mecklin, J.-P., & Seppälä, T. (2023). Lynch syndrome genetics and clinical implications. Gastroenterology, 164(5), 783-799. https://doi.org/10.1053/j.gastro.2022.08.058
JYU authors or editors
Publication details
All authors or editors: Peltomäki, Päivi; Nyström, Minna; Mecklin, Jukka-Pekka; Seppälä, Toni, T.
Journal or series: Gastroenterology
ISSN: 0016-5085
eISSN: 1528-0012
Publication year: 2023
Publication date: 24/01/2023
Volume: 164
Issue number: 5
Pages range: 783-799
Publisher: Elsevier BV
Publication country: Netherlands
Publication language: English
DOI: https://doi.org/10.1053/j.gastro.2022.08.058
Publication open access: Openly available
Publication channel open access: Partially open access channel
Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/86297
Additional information: Invited 2023 13th Issue: GI Cancer Risk Assessment.
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.
Keywords: Lynch syndrome; cancerous diseases; cancer of the large intestine; hereditary diseases; medical genetics; clinical medicine
Free keywords: Lynch syndrome; genetics
Contributing organizations
Ministry reporting: Yes
VIRTA submission year: 2023
JUFO rating: 3
