Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

Abstract Constitutional mismatch repair deficiency (CMMRD), caused by bi-allelic germline variants in mismatch repair (MMR) genes, is associated with high cancer incidence early in life. A better understanding of mutational processes driving sequential CMMRD tumors can advance optimal treatment. Her...

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Main Authors: Dilys D. Weijers, Snežana Hinić, Emma Kroeze, Mark AJ Gorris, Gerty Schreibelt, Sjors Middelkamp, Arjen R. Mensenkamp, Reno Bladergroen, Kiek Verrijp, Nicoline Hoogerbrugge, Pieter Wesseling, Rachel S. van der Post, Jan LC Loeffen, Corrie EM Gidding, Mariëtte CA van Kouwen, I. Jolanda M. de Vries, Ruben van Boxtel, Richarda M. de Voer, Marjolijn CJ Jongmans, Roland P. Kuiper
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59775-2
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