Cancer genome datamining and functional genetic analysis implicate mechanisms of ATM/ATR dysfunction underpinning carcinogenesis

Waskiewicz et al. identify functionally important and evolutionarily conserved residues of ATM/ATR via data mining and a functional genetic analysis, finding that loss of the intrinsic kinase activity occurs infrequently in carcinogenesis. This study provides insights into the genotype-phenotype rel...

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Autores principales: Erik Waskiewicz, Michalis Vasiliou, Isaac Corcoles-Saez, Rita S. Cha
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/a3ab37abd19345cbb306b4a4b5e50121
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Sumario:Waskiewicz et al. identify functionally important and evolutionarily conserved residues of ATM/ATR via data mining and a functional genetic analysis, finding that loss of the intrinsic kinase activity occurs infrequently in carcinogenesis. This study provides insights into the genotype-phenotype relationships in ATM/ATR and their cancer-associated variants.