13 Gene-function-clinic Flashcards
How does BRCA 1/2 increase your risk of breast cancer?
12% to 85%
How does BRCA 1 and 2 increase ovarian cancer risk?
2% to … 1 55% …. 2 25%
Which drugs are designed for BRCA positive breast cancer? (3)
Tamoxifen.
Cisplatin.
PARP inhibitors.
Name 4 diseases pre symptomatic screening is available for:
Breast cancer.
Colon cancer.
Retinitis pigmentosa.
Huntington’s disease.
What is diagnostic gene testing used for? (3)
Confirming diagnoses.
Identifying cases of non-penetrance.
Identifying carriers of recessive mutations.
What pre-implantation diagnoses are currently allowed?
Non-disclosure testing (huntington’s).
HLA typing to match blood stem cells to sibs.
What is non-disclosure testing?
Testing embryos before implantation without telling the parents their risk of the genetic disease.
What is the heritability of BMI?
70 - 80%
What does leptin do (normally released by fat cells). (3)
Decreases food intake.
Increases thermogenesis.
Increases physical activity.
What is Leber’s congenital amarausis?
Mutation?
Blindness at birth or infancy. Recessive RPE65 mutation.
Why is Leber’s congenital amarausis a good target for gene therapy?
Eye is immune privileged and accessible by sub retinal injection.
What is RPE65 involved in?
Reconverts isomer in retinal pigmented epithelium to allow photo receptivity.
What is CYP2D6?
Highly polymorphic member of CP450 enzymes.
What is the clinical significance of CYP2D6?
Converts tamoxifen to active metabolite.
Poor metabolisers associated with decreased survival.
