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- Title
Reply to Li and Colleagues.
- Authors
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
Pathogenic variants in adult-onset cancer predisposition genes in pediatric cancer: prevalence and impact on tumor molecular features and clinical management [published online ahead of print]. In addition to our findings that were at least in part confirmed in a validation cohort and a supplementary analysis, there is growing evidence from childhood cancer sequencing studies suggesting that PVs in genes like I BRCA1 i and I BRCA2 i , as well as other adult-onset cancer predisposition genes, represent (low penetrance) cancer risk alleles in children and adolescents ([[3], [5], [7], [9]]). We thank Dr Li and colleagues ([1]) for their correspondence in which the following point related to our publication entitled "Heterozygous I BRCA1 i and I BRCA i 2 and mismatch repair gene pathogenic variants in children and adolescents with cancer" is raised: The frequency of I BRCA2 i pathogenic variant (PV) carriers in the population (including controls) decreases with age, due to the primarily cancer related death of carriers.
- Subjects
CANCER genes; EWING'S sarcoma; GENETIC variation; BRAIN tumors
- Publication
JNCI: Journal of the National Cancer Institute, 2023, Vol 115, Issue 6, p760
- ISSN
0027-8874
- Publication type
Article
- DOI
10.1093/jnci/djad057