Personalised + Stratified Medicine

Question 1

Genome

Answer 1

20,441 coding genes (2%)
Non-coding 98%
>20,000 non-coding RNAs

Question 2

Disease causes

Answer 2

Faulty methylation of genes
Faulty histone modifications
Faulty protein folding or other post-translational modifications

Question 3

Whole genome sequencing

Answer 3

sequence entire genome (coding and non-coding)

Question 4

Whole exome sequencing

Answer 4

sequencing the 2% coding genome (exons)

Question 5

Breast cancer Stat

Answer 5

450,000 deaths worldwide

>1,300,000 cases

Question 6

Breast cancer subtypes

Answer 6

Luminal A
Luminal B
Basal-like
HER2+

Question 7

HER2

Answer 7

Cell surface signalling protein that is amplified in breast cancer cells
Benefit from anti-HER2 monoclonal antibody treatments

Question 8

Cutaneous melanoma Stats

Answer 8

> 100,000 cases

22,000 deaths each year in Europe

Question 9

Cutaneous melanoma subtypes

Answer 9

BRAF-mutant (50%) (BRAF-V600E)
RAS-mutant (30%) (NRAS-Q61)
NF1-mutant (10-15%)
Triple wild type (KIT, GNAQ, GNA11)

Question 10

BRAF-V600E

Answer 10

Over-activates RAF/MEK/ERK signalling pathway