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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Genome sequencing identifies a basis for everolimus sensitivity.

Gopa Iyer1, Aphrothiti J Hanrahan, Matthew I Milowsky

  • 1Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.

Science (New York, N.Y.)
|August 28, 2012
PubMed
Summary

Whole-genome sequencing identified a TSC1 (tuberous sclerosis complex 1) mutation linked to bladder cancer remission with everolimus. This discovery highlights the potential of genetic biomarkers for predicting patient response to targeted cancer therapies.

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Area of Science:

  • Oncology
  • Genetics
  • Pharmacogenomics

Background:

  • Cancer drugs can yield significant responses in a small patient subset.
  • Identifying the genetic underpinnings of drug sensitivity is crucial for personalized medicine.

Purpose of the Study:

  • To investigate the genetic basis for a durable remission in metastatic bladder cancer.
  • To explore the utility of whole-genome sequencing in identifying biomarkers for targeted cancer drug sensitivity.

Main Methods:

  • Whole-genome sequencing was performed on a patient with metastatic bladder cancer achieving remission with everolimus.
  • Targeted sequencing was used to analyze TSC1 (tuberous sclerosis complex 1) mutations in additional bladder cancer samples.

Main Results:

  • A loss-of-function mutation in TSC1, a regulator of the mTOR pathway, was identified in the patient.
  • TSC1 mutations were found in approximately 8% of 109 bladder cancer patients and correlated with everolimus sensitivity.

Conclusions:

  • Whole-genome sequencing can identify previously unrecognized biomarkers for drug sensitivity in a clinical setting.
  • TSC1 mutations may serve as a predictive biomarker for everolimus response in bladder cancer patients.