Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Purpose: ATM germline pathogenic variants (GPVs) are associated with a moderately increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources for managing ATM heterozygotes in clinical practice are limited.

Methods: An international workgroup developed a clinical practice resource to guide management of ATM heterozygotes using peer-reviewed publications and expert opinion.

Pediatric firearm injuries and socioeconomic vulnerability before and during the COVID-19 pandemic.

Background: Pediatric firearm injuries disproportionately affect groups experiencing socioeconomic disadvantage. Firearm injuries increased during the COVID-19 pandemic, but the impact on communities by degree of socioeconomic disadvantage is unknown. We examined the association between socioeconomic vulnerability and change in pediatric firearm injuries before versus during the pandemic.

The Impact of COVID-19 on Patterns of Fractures Presenting to Pediatric Emergency Departments.

Objective: To examine differences in pediatric fracture prevalence, severity, and mechanisms of injury before and during the COVID-19 pandemic.

Methods: This is a subanalysis of data from a multicenter, cross-sectional study of all injury-related visits to 40 urban pediatric emergency departments (EDs) for children younger than 18 years occurring January 2019-December 2020. ED visits for injuries including fractures were identified by International Classification of Diseases, Tenth Revision codes.

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).

Purpose: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.