Molecular Genetics 🧬

Question 1

Medullary Thyroid Ca
Originating cells and genes?
Clinical vignette?

Answer 1

Calcitonin - c-cells of parafoliicular thyroid cell
Hypercalcemia
Ret genes
MEN2A/B

Question 2

Breast Ca genes ?

Answer 2

1. BRCA1/2 - TSG : ass with Ovarian Ca

2.HER2 (ERBB2)- aggressive / treat with EGFR inhibitor mAb

Usually : treat with hormone inhibitor( Anti estrogen ) - Tamoxifen , if no HER2 mutation

Question 3

Roles of i-KB during infection and how it regulates immune response ?

Answer 3

IkB binds to NF kB as inactive (dormant ) state in cytoplasm of immune cell
Become activated due to external factors (when viral/bac protein binds with TLR on CM)
Active TFkB produces :
Cytokines
Acute Phase Reactant

Question 4

Molecular basis of HPV oncogenesis

Answer 4

HPV produce viral onco protein(E6/E7)
E6 binds to TP53 and E7 to Rb
E6+p53 - loss of tumor suppression
E7 +Rb - cell cycle activation and proliferation through E2F

Question 5

Genes coding TKR (tyrosine kinase receptor )

Answer 5

EGFR / ERBB1- lung adenocarcinoma
HER2/ERBB2- Breast

Question 6

Role of PD1L-PD1in tumor microenvironment

Answer 6

Immune evasion
T cell exhaustion
Cytokines - IL2 down regulations
Decrease T cell perform release
Increase ROS
Up regulate inmmunoinhibitory cytokines(IL10/TGF-b)