Ontology highlight
ABSTRACT:
SUBMITTER: Golubicki M
PROVIDER: S-EPMC7526538 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Golubicki Mariano M Bonjoch Laia L Acuña-Ochoa José G JG Díaz-Gay Marcos M Muñoz Jenifer J Cuatrecasas Miriam M Ocaña Teresa T Iseas Soledad S Mendez Guillermo G Cisterna Daniel D Schubert Stephanie A SA Nielsen Maartje M van Wezel Tom T Goldberg Yael Y Pikarsky Eli E Robbio Juan J Roca Enrique E Castells Antoni A Balaguer Francesc F Antelo Marina M Castellví-Bel Sergi S
JCI insight 20200917 18
Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM nor MLH1 somatic methylation. Biallelic somatic inactivation or cryptic germline MMR variants undetected during genetic testing have been proposed to be involved. Sixteen patients with early-onset LLS CRC wer ...[more]