Cancer Epidemiology in Hispanic Populations: Needs and Opportunities.

This report provides a summary of the identified evidence gaps and a general discussion of the next steps to advance cancer epidemiology research in Hispanic/Latino (H/L) populations based partly on the workshop, "Cancer Epidemiology in Hispanic Populations," convened by the NCI in September 2021. The cancer burden among H/L populations varies greatly by nativity and country of origin, yet this variation is not often captured due to systemic challenges in how racial/ethnic data have been collected and often reported in aggregate for this heterogeneous population. Developing culturally relevant assessment tools, increasing the representation of H/L participants, and adopting appropriate methodologic approaches are critical to enhancing cancer research.

Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.

Introduction: This study reviews the first 3 years of delivery of the first National Health Service (NHS)-commissioned trio rapid whole genome sequencing (rWGS) service for acutely unwell infants and children in Wales.

Methods: Demographic and phenotypic data were prospectively collected as patients and their families were enrolled in the Wales Infants' and childreN's Genome Service (WINGS). These data were reviewed alongside trio rWGS results.

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Background: Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo, heterozygous variants in KIF5B, encoding a kinesin-1 subunit, in four individuals with osteogenesis imperfecta.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported.

Cancer Epidemiology in Hispanic Populations: An Analysis of Funded Observational Research at the National Cancer Institute.

Background: More than 62 million people self-identified as Hispanic/Latino (H/L) in the 2020 United States census. The U.S.