Personalised Medicine Flashcards
How is ‘pharmacogenetics’ defined?
Application of genetic analysis to predict drug response, efficacy, and toxicity
What is personalised medicine?
Use of pharmacogenomics/ pharmacogenetics in patient-specific genetic information to predict patients’ response to different drugs
Prevention and Treatment based on environment, lifestyle and genes
Allows for individualisation of healthcare
What is precision medicine?
Targeted therapies based on molecular diagnostics
What type of mutations can be passed on to offspring?
Germ cell mutations
What is germline risk?
Variants present in an individual’s genome since conception that increase risk of developing cancer
What are somatic mutations found in tumours?
Mutations that occur during a patient’s lifetime that directly lead to oncogenesis
What is the Knudson hypothesis?
Cancel can results from the accumulation of genetic mutations in a single cell
What is BRCA1?
Human tumour suppressor gene (caretaker gene)
Responsible for repairing DNA
- Double strand breaks
mutation in BRCA1 gene can increase persons risk of developing breast + ovarian cancer
What is ‘olaparib’?
PARP inhibitor
- used to treat breast and ovarian cancer
- blocks PARP
- prevents repair of damaged DNA
- cancer cells can’t repair themselves = cell death
What is the EGF receptor?
Responsible for a cascade resulting in cell proliferation
When activated by EGF
What is ‘gefitinib’?
EGFR inhibitor
Tyrosine kinase as a target
NSCLC
What is ‘erlotinib’?
Tyrosine kinase inhibitor which works by blocking EGFR
EGFR inhibitor
Tyrosine kinase as a target
NSCLC
Name some examples of an EGFR inhibitor.
(1) Gefitinib
(2) Erlotinib
What are CDK4/6?
Cell cycle dependent kinase 4/6
Key regulator of the cell cycle
over production of this by cancer cells = hall mark 3
What is ‘palbococlib’?
Selective inhibitor of cell cycle dependent kinase 4/6
- breast cancer
- CDK4/6 inhibitor
