Article
Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.
The American journal of surgical pathology - 1 Jun 2016
Kato Aya, Sato Naoki, Sugawara Tae, Takahashi Kazue, Kito Masahiko, Makino Kenichi, Sato Toshiharu, Shimizu Dai, Shirasawa Hiromistu, Miura Hiroshi, Sato Wataru, Kumazawa Yukiyo, Sato Akira, Kumagai Jin, Terada Yukihiro
Abstract excerpt
Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC). Women with LS account for 2% to 6% of EC patients; it is clinically important to identify LS in such individuals for predicting...
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