New Paradigms in the Clinical Management of Li-Fraumeni Syndrome.

Approximately 8.5%-16.2% of childhood cancers are associated with a pathogenic/likely pathogenic germline variant-a prevalence that is likely to rise with improvements in phenotype recognition, sequencing, and variant validation.

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.

Unlabelled: Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts.

Materials And Methods: Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA.

Reduced fetal movements and maternal medication - new pregnancy risk factors for neurodevelopmental disability in childhood.

A case-control study was undertaken of 471 children on the Nottingham Special Needs Register (SNR) who were born in one of the two maternity units in the city between 1987 and 1993 (inclusive). Controls were selected as the next infant born at the same hospital following each index case. The aim of the study was to identify risk factors on the Nottingham Obstetric Database for a baby subsequently appearing on the SNR.