[HTML][HTML] Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients

S Wong, P Hui, N Buza - Modern Pathology, 2020 - Elsevier
Lynch syndrome is most often caused by a germline mutation in one of four DNA mismatch
repair (MMR) genes (MLH1, PMS2, MSH2, or MSH6) or EPCAM and is associated with a
significantly increased risk of endometrial cancer in affected women. Although universal
screening of endometrial cancer for Lynch syndrome is becoming increasingly common by
various algorithms using MMR immunohistochemistry and/or microsatellite instability testing
by PCR, establishing the diagnosis of Lynch syndrome can be still challenging. MMR …