genetic screening

Unraveling Genetic Drivers in Triple Negative Thrombocytosis: Implications of MPL and SH2B3/LNK Mutations

By MedXY 07/12/2026

Comprehensive genetic screening of triple negative thrombocytosis reveals germline MPL compound mutations and truncating SH2B3/LNK alterations, offering new insights into diagnosis and personalized management.

news Oncology Public Health

Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary Analysis of the WISDOM Study

By MedXY 06/09/2026

This WISDOM Study analysis found that most women with breast cancer pathogenic variants would not have been flagged for high-risk screening by clinical or polygenic risk models alone, supporting population-based genetic testing.

news Oncology Ophthalmology

MBD4 Germline Variants Mark a Strong Predisposition to Uveal Melanoma, Supporting Broad Genetic Screening

By MedXY 05/04/2026

A large French case series found pathogenic or likely pathogenic germline MBD4 variants in 23 of 896 patients with uveal melanoma, corresponding to a 31-fold relative risk versus the general population.