Precision medicine review: rare driver mutations and their biophysical classification

Area of Science:

• Biophysics and Precision Medicine
• Genomics and Molecular Biology

Background:

• Precision medicine often assumes driver mutations are frequent, overlooking rare variants.
• Current data-driven approaches in precision oncology excel at identifying molecular signatures but may miss mechanistic nuances.

Purpose of the Study:

• To review how biophysical principles can extend precision medicine's capabilities in identifying rare and latent driver mutations.
• To outline strategies for leveraging biophysics to understand mutation mechanisms and signaling consequences.

Main Methods:

• Review of biophysical principles and their application to cancer driver mutations.
• Comparison of biophysical approaches with data science methodologies in precision medicine.

Main Results:

• Biophysics provides mechanistic understanding of how mutations, frequent or rare, affect multiple phenotypic traits.
• Biophysics clarifies how mutations alter protein conformations and network interactions, guiding drug discovery.
• Biophysics offers strategies to identify mutations and their signaling consequences, complementing data science.

Conclusions:

• Biophysical principles are crucial for a comprehensive understanding of driver mutations in precision medicine.
• Integrating biophysics with data science can advance personalized medicine and drug discovery, especially for rare mutations.