Classification of mismatch repair gene missense variants with PON-MMR.
作者： Heidi Ali , Ayodeji Olatubosun , Mauno Vihinen
DOI: 10.1002/HUMU.22038
关键词:
摘要: Numerous mismatch repair (MMR) gene variants have been identified in Lynch syndrome and other cancer patients, but knowledge about their pathogenicity is frequently missing. The diagnosis treatment of patients would benefit from knowing which are disease related. Bioinformatic approaches well suited to the problem can handle large numbers cases. Functional effects were revealed based on literature for 168 MMR missense variants. Performance numerous prediction methods was tested with this dataset. Among tools, only results tolerance correlated functional information, however, poor performance. Therefore, a novel consensus-based predictor developed. method, pathogenic-or-not (PON-MMR), achieved accuracy 0.87 Matthews correlation coefficient 0.77 experimentally verified When applied 616 cases unknown effects, 81 predicted be pathogenic 167 neutral. With PON-MMR, number effect reduced by classifying as likely or benign. used, example, prioritize experimental studies assist classification
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