Pharmacogenetics

Pharmacogenetics is the study of inherited genetic differences in drug metabolic pathways which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.The term pharmacogenetics is often used interchangeably with the term pharmacogenomics which also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function.

In oncology, pharmacogenetics historically is the study of germ line mutations (e.g., single-nucleotide polymorphisms affecting genes coding for liver enzymes responsible for drug deposition and pharmacokinetics), whereas pharmacogenomics refers to somatic mutations in tumoral DNA leading to alteration in drug response (e.g., KRAS mutations in patients treated with anti-Her1 biologics).

  • Epigenetic inheritance of chromatin states / Role of DNA methylation in human disease
  • Role of histone post-translational modifications in disease
  • Transgenerational epigenetic inheritance
  • Copy number variants in the human genome
  • Chromosomal anomalies in cancer

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