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

Journal of the National Cancer Institute - 14 Nov 2022

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

Abstract excerpt

BACKGROUND: Genetic predisposition is has been identified as a cause of cancer, yet little is known about the role of adult cancer predisposition syndromes in childhood cancer. We examined the extent to which heterozygous pathogenic germline variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, MSH2, MSH6, MLH1, and PMS2 contribute to cancer risk in children and adolescents. METHODS: We conducted a meta-analysis of 11...

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PMID: 35980168
DOI: 10.1093/jnci/djac151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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