A Novel Stop-Gain Mutation in MSH2 Gene Among a Persian Family Fulfilling Classic Amsterdam Criteria for Lynch Syndrome

Abstract excerpt

<title>Abstract</title> <p>Purpose Lynch syndrome is the most common hereditary cancer syndromes due to a germline mutation in one of the mismatch-repair (MMR) genes. It results in early-onset colorectal cancer (CRC) and other Lynch-associated cancers in an autosomal dominant pattern. In this article, a new pathogenic variant in a Persian family with familial CRCs and positive Amsterdam II criteria has been desc...

Topics

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• Colorectal Neoplasms, Hereditary Nonpolyposis
• DNA Mismatch Repair
• Germ-Line Mutation
• Immunoenzyme Techniques
• Iran
• Microsatellite Instability
• MutS Homolog 2 Protein
• Survival Rate

Identifiers and source

Literature Corpus work

26bc451e-894e-5dd1-9897-e1ed13bb5d40

DOI

10.21203/rs.3.rs-158152/v1