The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.

Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing.

Age-related remodeling of the vocal fold extracellular matrix composition, structure, and biomechanics during tissue maturation.

Purpose: The vocal folds (VFs) are among the most mechanically active connective tissues, vibrating between 80 and 250 hz during speech. Overall VF function is determined by the composition and structure of their extracellular matrix (ECM). During tissue maturation, the VFs remodel from a monolayer of collagen fibers to a tri-layered structure, affecting tissue biomechanics.

Gynecologic cancer screening among women with Lynch syndrome: Information and healthcare access needs.

Objectives: Screening recommendations for gynecologic cancers (GC) associated with Lynch syndrome (LS) are diverse. The objectives of this study were to examine among women with LS: 1) psychosocial factors that influence thoughts and choices about GC screening, and 2) information and unmet healthcare access needs when making GC screening decisions.

Methods: This study used a qualitative design.