Efficient screening strategy for lynch syndrome in Japanese endometrial cancer

The Tohoku Journal of Experimental Medicine
Tae SugawaraYukihiro Terada

Abstract

Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repair (MMR) genes and is associated with increased risk of various cancers, particularly colorectal cancer and endometrial cancer (EC). It is significant to identify LS in EC patients for prediction and prevention of the succeeding other associated cancers. However, useful LS screening guidelines for EC have not been established. The purpose of our study is to devise an efficient and practical screening strategy for LS in EC. We designed original criteria, named "APF criteria," with lenient terms (Age of onset < 50, or Personal or Family history of associated cancers) and applied it to unselected EC patients. We performed immunohistochemistry (IHC) and the methylation assay of MutL homolog 1 (MLH1) gene promoter using the tumors of patients who met our criteria, and thus selected "suspected LS" as the candidates for genetic analyses. Of 360 EC patients, 187 (51.9%) met the APF criteria, and the tumor specimens were available from 182 out of the 187 patients. IHC revealed that expression of at least one MMR protein was absent in cell nuclei of 54 (29.6%) tumors. Of 20 tumors lacking MLH1 protein expression, 14 cases were judged sporad...Continue Reading

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Citations

Jan 10, 2016·DNA Repair·Rolf H Sijmons, Robert M W Hofstra
Aug 28, 2015·The Tohoku Journal of Experimental Medicine·Masahiko KitoYukihiro Terada
May 16, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·N A J RyanE J Crosbie
Jul 19, 2017·The Nurse Practitioner·Dawn S Harrison, Marilyn Handley
Aug 26, 2021·Journal of Gynecologic Oncology·Enami KanekoYukihiro Terada

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