mismatch repair deficiency
Researchers Aim to Improve Lynch Syndrome Testing With Genetic-Epigenetic Combination Method
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The sequencing test involves a single library preparation that is then split for parallel analysis of promoter methylation, MSI calculation, and gene mutation detection.
Cancer, Pathology Organizations Developing Clinical Guidelines for MMR, MSI Testing
The groups have written draft recommendations and are now asking for public comment from pathologists and other stakeholders.
Colorectal Cancers Dial up Mutability in Response to Targeted Treatments
A new study suggests that colorectal cancers increase their mutation rate to dodge treatment in a manner that mirrors microbial resistance mechanisms.
Lynch Syndrome Mutation Study Suggests Changes to Clinical Management
Investigators pooled older and new data from the Prospective Lynch Syndrome Database, tracking outcomes for different mutations across age and gender groups.
Immunotherapy Response in MMR-Deficient Tumors Linked to MSI Levels, Indel Mutations
Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.