Tumor associations

Question 1

PDGFB - what is the function, mechanism and associated tumor?

Answer 1

Function: Platelet-derived growth factor

Mechanism: Overexpression, autocrine loop

Associated tumor: Astrocytoma

Question 2

ERBB2 [HER2/neu] - what is the function, mechanism and associated tumor?

Answer 2

Function: Epidermal growth factor receptor

Mechanism: Amplification

Associated tumor: Breast cancer

Targeted by Herceptin (trastuzumab)

Question 3

RET - what is the function, mechanism and associated tumor?

Answer 3

Function: neural growth factor receptor

Mechanism: point mutation

Associated tumor: MEN2A and B, sporadic medullary carcinoma of thyroid

Question 4

KIT - what is the function, mechanism and associated tumor?

Answer 4

Function: stem cell growth factor receptor

Mechanism: point mutation

Associated tumor: GI stromal tumor

Question 5

RAS gene family - what is the function, mechanism and associated tumor?

Answer 5

Function: GTP-binding protein sends growth signals to nucleus (activated when bound to GTP, inactivated when bound to GDP)

Mechanism: point mutation

Associated tumor: most tumors- carcinomas, melanoma and lymphoma

Question 6

ABL - what is the function, mechanism and associated tumor?

Answer 6

Function: Tyrosine kinase

Mechanism: Increases expression when fused with BCR t(9;22)-> Philadelphia chromosome

Associated tumor: CML and adult B-ALL

Question 7

c-MYC - what is the function, mechanism and associated tumor?

Answer 7

Function: transcription factor

Mechanism: t(8;14) involving IgH heavy chain

Associated tumor: Burkitt lymphoma

Question 8

N-MYC - what is the function, mechanism and associated tumor?

Answer 8

Function: transcription factor

Mechanism: amplification

Associated tumor: Neuroblastoma

Question 9

L-MYC - what is the function, mechanism and associated tumor?

Answer 9

Function: transcription factor

Mechanism: amplification

Associated tumor: small cell lung carcinoma

Question 10

CCND1 (cyclin D1) - what is the function, mechanism and associated tumor?

Answer 10

Function: cyclin -> promotes progression from G1/S

Mechanism: t(11;14) involving IgH heavy chain

Associated tumor: Mantle cell lymphoma

Question 11

CDK4 - what is the function, mechanism and associated tumor?

Answer 11

Function: cyclin dependent-kinase

Mechanism: amplification

Associated tumor: melanoma