Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

Christian P Kratz,Dmitrii Smirnov,Robert Autry,Natalie Jäger,Sebastian M Waszak,Anika Großhennig,Riccardo Berutti,Mareike Wendorff,Pierre Hainaut,Stefan M Pfister,Holger Prokisch,Tim Ripperger,David Malkin

Journal of the National Cancer Institute（2022）

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摘要

These data suggest that heterozygous PVs in BRCA1 and 2 and mismatch repair genes contribute with reduced penetrance to cancer risk in children and adolescents. No changes to predictive genetic testing and surveillance recommendations are required.

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关键词

<i>brca1</i>,cancer,gene

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