Methylation Analysis of MLH1 Improves the Selection of Patients for Genetic Testing in Lynch Syndrome

摘要: Inactivation of MLH1 due to promoter hypermethylation strongly suggests a sporadic origin, providing exclusion criteria for Lynch syndrome. The aim this study is compare the utility methylation analysis and BRAF V600E mutations selection patients with negative colorectal cancer genetic testing. status was evaluated by MethyLight methylation-specific MLPA (MS-MLPA) in tumor DNA from 73 loss protein expression. These tumors were analyzed mutations, testing germline performed all corresponding patients. Ten had none their showed significant or mutation. excluded 47 (64%), MS-MLPA 49 (67%), mutation only 25 (34%) (χ2 P = 0.00001). Specificity 75% MethyLight, 78% 40% use instead resulted cost reduction 41% 45%, respectively, per every detected. Taken together, shows better performance characteristics than MLH1, especially when using MS-MLPA.