02/04/2026
SMAD4 gene mutation analysis is a molecular diagnostic test used to identify pathogenic variants in the SMAD4 tumor suppressor gene, a key mediator of the TGF-β signaling pathway. SMAD4 plays a crucial role in regulating cell growth, differentiation, and apoptosis. Mutations in this gene are commonly associated with pancreatic ductal adenocarcinoma, colorectal cancer, and juvenile polyposis syndrome. The analysis is typically performed using next-generation sequencing on tumor tissue or peripheral blood samples. Detection of SMAD4 alterations provides valuable prognostic information, as loss of SMAD4 function is linked to aggressive tumor behavior and poor clinical outcomes. Additionally, SMAD4 mutation status can aid in hereditary cancer risk assessment and guide patient management strategies.