TY - JOUR ID - 48477 TI - Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review JO - Middle East Journal of Cancer JA - MEJC LA - en SN - 2008-6709 AU - Abdollahi, Zeinab AU - Tabatabaiefar, Mohammad Amin AU - Emami, Mohammad Hassan AU - Zeinalian, Mehrdad AD - Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran AD - Poursina Hakim Digestive Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran Y1 - 2023 PY - 2023 VL - 14 IS - 2 SP - 300 EP - 308 KW - Lynch syndrome KW - Colorectal cancer KW - Neoplastic syndromes KW - Hereditary KW - Mismatch repair gene DO - 10.30476/mejc.2022.92251.1650 N2 - Lynch syndrome (LS) predisposes individuals to early-onset colorectal and other Lynch-associated cancer. This disorder is an autosomal dominant genetic disturbance caused by germline mutations in one of the mismatch repair genes. Different clinical and molecular criteria are used to diagnose LS. Microsatellite instability testing and immunohistochemistry are two widely used methods for the molecular screening of LS-associated cancers. According to the immunohistochemistry and Microsatellite instability testing, we introduce three Persian families with Lynch-like syndrome (LLS) who met clinical Amsterdam-II criteria and their probands were mismatch repair deficient. In the case of immunohistochemistry-MLH1 absent, BRAF-V600E mutation was evaluated to rule out the sporadic colorectal cancer cases. No pathogenic germline variants were found by next generation sequencing method. Multiplex ligation-dependant probe amplification technique was done to find large in/dels within MLH1/MSH2 genes of the probands. A two-exon deletion within MLH1 gene was eventually identified in one of the patients. Finally, we have represented a molecular pipeline to diagnose LLS based on literature review and the introduced cases. UR - https://mejc.sums.ac.ir/article_48477.html L1 - https://mejc.sums.ac.ir/article_48477_ea25e9ecf8b5bd101920601fef1c3890.pdf ER -