Lynch syndrome in the general population: low clinical utility of genomic screening for<i>PMS2</i>pathogenic variants

Abstract excerpt

<h4>Purpose</h4> Screening for Lynch syndrome in the general population aims to prevent and detect cancers early. However, current clinical guidelines for those with pathogenic variants are largely based on studies of patients with cancer or strong family history. The objective of this study was to determine the risk of cancer associated with pathogenic variants in MLH1 , MSH2 , MSH6 , or PMS2 in the general popul...

Topics

Open a Topic to create a Post that cites this publication.

• Colorectal Neoplasms, Hereditary Nonpolyposis
• DNA-Binding Proteins
• DNA Mismatch Repair
• Heterozygote
• Mismatch Repair Endonuclease PMS2
• MutL Protein Homolog 1
• MutS Homolog 2 Protein
• Risk Assessment

Identifiers and source

Literature Corpus work

76f0b255-9960-56fa-bb13-da8125e89073

DOI

10.1101/2025.02.03.25321630