DNA mismatch repair proteins: scientific update and practical guide

作者: Adrian C Bateman

DOI: 10.1136/JCLINPATH-2020-207281

关键词:

摘要: DNA mismatch repair (MMR) proteins are essential for the recognition and correction of sporadic genetic mutations that occur during replication. Deficient MMR function (dMMR) leads to an increased risk development neoplasia. Identification dMMR within tumours can suggest a high chance inherited cancer condition Lynch syndrome predicts poor clinical response certain conventional chemotherapies but likelihood immunotherapy. This review provides update on biology proteins, their encoding genes mechanisms dMMR. is followed by discussion identification significance in routine practice.

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