What is the Origin of Breast Cancer Pharmacogenetics?

Pharmacogenetics is a sub-discipline of pharmacology and genetics, with its application in breast cancer stemming from the observation of significant inter-individual variability in treatment response. The genetic component of this variability became a focus as high-throughput genotyping and sequencing technologies emerged, particularly for metabolism-related enzymes and drug targets. This approach is fundamental to advancing personalized oncology care.

What is the Mechanism of Breast Cancer Pharmacogenetics?

The discipline primarily focuses on genetic polymorphisms, such as single nucleotide polymorphisms (SNPs), within genes encoding drug-metabolizing enzymes like Cytochrome P450 (CYP) enzymes, drug transporters, and drug targets, including hormone receptors. Variations in these genes can lead to altered enzyme activity, resulting in rapid or poor metabolism of a drug. Consequently, this affects its plasma concentration, its active metabolite levels, and ultimately its therapeutic effect or toxic potential within the patient.

Breast Cancer Pharmacogenetics ∞ Area

Breast Cancer Pharmacogenetics

Meaning

The study of how an individual’s genetic variations influence their response to drugs used in breast cancer treatment, encompassing both efficacy and toxicity. This specialized field of precision medicine aims to identify specific germline or somatic gene polymorphisms that predict patient outcomes for hormonal agents, chemotherapy, and targeted therapies. Implementing this knowledge allows for personalized dosing and drug selection, optimizing therapeutic benefit while minimizing adverse effects.