Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer condition, is characterized by the predisposition to a spectrum of cancers, primarily colorectal cancer and endometrial cancer. We chronicle over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome, beginning in 1895 with Warthin's observations of familial cancer clusters, through the clinical era led by Lynch and the genetic era heralded by the discovery of causative mutations in mismatch repair (MMR) genes, to ongoing challenges.
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http://dx.doi.org/10.1038/nrc3878 | DOI Listing |
Mol Genet Genomic Med
January 2025
Department of General Surgery, The Fourth Affiliated Hospital, China Medical University, Shenyang, Liaoning, China.
Background: Lynch syndrome (LS) is an autosomal-dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees.
Methods: One four-generation Chinese Han family from northeast China with 29 members was enrolled.
Eur J Cancer
December 2024
Department of Digestive Medical Oncology, Toulouse University Hospital, Toulouse, France; Toulouse Cancer Research Centre, Toulouse, France; Department of Oncogenetics, Oncopole Claudius Regaud, Toulouse, France; Groupe Génétique et Cancer, Unicancer, France. Electronic address:
Background: Sarcomas do not belong to the Lynch Syndrome (LS)-tumour spectrum. A growing body literature has reported sarcomas in patients with LS. Clinical and tumour characteristics of these patients remain unknown.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
Lynch Syndrome (LS) is a hereditary disorder characterized by genetic mutations in DNA mismatch repair genes, affecting approximately 0.35% of the population. LS primarily increases the risk of colorectal cancer (CRC), as well as various other cancer types like endometrial, breast, and gastric cancers.
View Article and Find Full Text PDFClin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFTumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
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