Functional Genomics Based on Germline Genome-Wide Association Studies of Endocrine Therapy for Breast Cancer

Abstract

Breast cancer is the most common invasive cancer in women worldwide. Functional follow-up of breast cancer genome-wide association studies has led to the discovery of genes that regulate endocrine therapy response in a SNP- and drug-dependent manner. Here, we will present four examples in which functional genomic studies from breast cancer clinical trials led to novel pharmacogenomic insights and molecular mechanisms of selective estrogen receptor modulators and aromatase inhibitors. The approach utilized for studying genetic variability described in this review offers substantial potential for meaningful discoveries that move the field toward precision medicine for patients.

Keywords::

• breast cancer
• endocrine therapy
• functional genomics
• GWAS
• SNP

Financial & competing interests disclosure

This work was supported by the Breast Cancer Research Foundation (18-076) and the Eisenberg Foundation. J Zayas was supported by the Mayo Clinic Medical Scientist Training Program (T32 GM065841) and Initiative for Maximizing Student Development (R25 GM055252). L Wang is a cofounder and stockholder in OneOme, LLC. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

This work was supported by the Breast Cancer Research Foundation (18-076) and the Eisenberg Foundation. J Zayas was supported by the Mayo Clinic Medical Scientist Training Program (T32 GM065841) and Initiative for Maximizing Student Development (R25 GM055252). L Wang is a cofounder and stockholder in OneOme, LLC. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.