Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.

doi:10.1158/1078-0432.CCR-23-3994

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Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Aug 2024

Das Anirban, MacFarland Suzanne P, Meade Julia, Hansford Jordan R, Schneider Kami W, Kuiper Roland P, Jongmans Marjolijn C J, Lesmana Harry, Schultz Kris Ann P, Nichols Kim E, Durno Carol, Zelley Kristin, Porter Christopher C, States Lisa J, Ben-Shachar Shay, Savage Sharon A, Kalish Jennifer M, Walsh Michael F, Scott Hamish S, Plon Sharon E, Tabori Uri

Abstract excerpt

Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the PMS2, MSH6, MSH2, or MLH1 genes, and/or in the polymerase-proofreading genes POLE and POLD1. RRD predisposition syndromes (constitutional MMR deficiency, Lynch, and polymerase proofreading-associated polyposis) share overlapping phenotypic and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38860976
DOI: 10.1158/1078-0432.CCR-23-3994

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