Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma.

Michaela Kuhlen Mariola Monika Golas Tina SchallerNicole StadlerFelicitas MaierOlaf WittMichael Christoph Frühwald

Published in: Hereditary cancer in clinical practice (2023)

Our data suggest that the LS cancer spectrum may include childhood cancer. The importance of LS in pediatric cancers necessitates prospective data collection. Comprehensive molecular workup of tumor samples is necessary to explore the causal role of germline genetic variants.

Keyphrases

childhood cancer
young adults
electronic health record
dna repair
big data
papillary thyroid
copy number
gene expression
oxidative stress
data analysis
squamous cell carcinoma
squamous cell