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MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome. [PDF]

open access: yesFam Cancer
Alvarez R   +17 more
europepmc   +1 more source

Age-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases. [PDF]

open access: yesJCO Precis Oncol
Wang JJ   +22 more
europepmc   +1 more source
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MLH1 Loss in Primary Prostate Cancer

JCO Precision Oncology, 2023
PURPOSE Among mismatch repair-deficient (MMRd) prostate cancers, loss of MLH1 is relatively uncommon and few cases have been reported in detail. METHODS Here, we describe the molecular features of two cases of primary prostate cancer with MLH1 loss detected by immunohistochemistry, and in one case, confirmed via transcriptomic profiling.
Sanaz Nourmohammadi Abadchi   +8 more
openaire   +2 more sources

MLH1/PMS2-deficient Endometrial Carcinomas in a Universally Screened Population: MLH1 Hypermethylation and Germline Mutation Status

International Journal of Gynecological Pathology, 2021
MLH1/PMS2 loss due to epigenetic hypermethylation of the MLH1 promoter is the most common cause of mismatch repair deficiency in endometrial carcinoma, and typically provides reassurance against an associated germline mutation. To further characterize the genetic features of MLH1/PMS2-deficient endometrial cancers, the departmental database was ...
Brett, Kurpiel   +6 more
openaire   +2 more sources

MLH1 and MSH2 Expression in Pterygia

Cornea, 2007
Pterygia have been reported to share some of the genetic defects seen in cancers, including microsatellite instability (MSI). We examined pterygia for the presence of proteins typically missing or defective in adenocarcinomas with MSI. We also performed microsatellite analysis on DNA from pterygia to test for instability in the size of the ...
Barbara G, Schneider   +4 more
openaire   +2 more sources

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