Molecular Biomarkers & Diagnosis

Molecular Mechanisms Underlying Biomarker Dysregulation in Rare Cancers: A Diagnostic Perspective

Abstract

María González

 Rare cancers, although individually infrequent, collectively represent a significant global health burden. These cancers are characterized by unique molecular signatures that can complicate diagnosis and treatment. Unlike more common cancers, rare cancers often exhibit distinct biological behaviors, such as different mutation profiles, epigenetic modifications, and aberrant signaling pathways, which are often not well understood. As a result, the diagnostic process for rare cancers remains challenging, often leading to late-stage diagnosis or misdiagnosis. Molecular biomarkers have emerged as powerful tools in cancer diagnostics, offering the potential to identify specific genetic mutations, protein expression patterns, and molecular alterations associated with rare cancers.