| Theme |
Lynch Syndrome and Hereditary Polyposis Syndromes |
| Title |
Genetic Testing for Lynch Syndrome |
| Author |
Hidetaka Eguchi |
Diagnosis and Therapeutics of Intractable Diseases & Intractable Disease Research Center, Juntendo University Graduate School of Medicine |
| Author |
Yasushi Okazaki |
Diagnosis and Therapeutics of Intractable Diseases & Intractable Disease Research Center, Juntendo University Graduate School of Medicine |
| [ Summary ] |
Screening of patients with Lynch syndrome based on certain guidelines or criteria using information such as age at onset, concomitant multiple cancers, histopathological features, as well as immunohistochemical and molecular genetic analysis is strongly recommended as a cost‒effective strategy. In this article, we have highlighted important points that need to be considered for screening and genetic testing and interpretation of the pathogenicity associated with variants of Lynch syndrome. Furthermore, we have described the frequencies of the mismatch repair genes among Japanese patients with Lynch syndrome based on our analyses and genotype‒phenotype relationships, focusing on the target organs and age at onset by the genes affected in Lynch syndrome. We have also discussed Lynch‒like syndrome in which patients present with deficiency of mismatch repair function caused by double somatic mutations. |