Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients

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Kato, Aya; Sato, Naoki; Sugawara, Tae; Takahashi, Kazue; Kito, Masahiko; Makino, Kenichi; Sato, Toshiharu; Shimizu, Dai; Shirasawa, Hiromitu; Miura, Hiroshi; Sato, Wataru; Kumazawa, Yukiyo; Sato, Akira; Kumagai, Jin; Terada, Yukihiro;
  • Publisher: Wolters Kluwer Health, Inc
  • Journal: The American Journal of Surgical Pathology,volume 40,issue 6,pages770-776 (issn: 0147-5185, eissn: 1532-0979)
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  • Related identifiers: doi: 10.1097/PAS.0000000000000606, pmc: PMC4885527
  • Subject: heterogenous | Lynch syndrome | Original Articles | endometrial cancer | PMS2 | MLH1 promoter hypermethylation | heterogeneous
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | digestive system diseases | neoplasms | nutritional and metabolic diseases

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, PMS2) and is associated with increased risk of various cancers, particularly colorectal cancer and endome... View more
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