WHIYFW

Question 1

Identify, give normal function and the result of a mutation

ABL

Answer 1

Tyrosine kinase (protooncogene)
CML (Chronic myelogenous leukemia

Question 2

Identify, give normal function and the result of a mutation

C-MYC

Answer 2

Nuclear transcription factor (protooncogene)

Burkitt lymphoma

Question 3

Identify, give normal function and the result of a mutation

ERB2

Answer 3

Tyrosine kinase (protooncogene)
Breast, ovarian, gastric carcinoma

Question 4

Identify, give normal function and the result of a mutation

RAS

Answer 4

*Most commonly mutated of the proto-oncogenes
GTPase. When active (bound to GTP), stimulates downstream regulators of proliferation
Colon, pancreatic carcinoma

Question 5

Identify, give normal function and the result of a mutation

L-MYC

Answer 5

Nuclear transcription factor (protooncogene)

Lung CA

Question 6

Identify, give normal function and the result of a mutation

RET

Answer 6

Tyrosine kinase (protooncogene)
Multiple endocrine neoplasia

Question 7

Identify, give normal function and the result of a mutation

C-KIT

Answer 7

Cytokine/growth factor (protooncogene)

GI stromal tumor

Question 8

Identify, give normal function and the result of a mutation

RB

Answer 8

Rb gene product blocks G1–>S in cell cycle by sequestering E2F (tumor suppressor gene)
Retinoblastoma, osteosarcoma

Question 9

Identify, give normal function and the result of a mutation

p53

Answer 9

“Guardian of the genome”
p53 gene product blocks G1–>S in cell cycle, inducing quiescence, senescence, or potentially apoptosis (tumor suppressor gene)
Pretty much all cancers end up with this mutated eventually
Li Fraumeni syndrome (one inherited p53 allele deficiency increases risk of CA by age 5 by 25x)

Question 10

Identify, give normal function and the result of a mutation

BRCA1

Answer 10

DNA repair protein (tumor suppressor gene)

Breast, ovarian CA

Question 11

Identify, give normal function and the result of a mutation

BRCA2

Answer 11

DNA repair protein (tumor suppressor gene)

Breast CA

Question 12

Identify, give normal function and the result of a mutation

BCL-2

Answer 12

Gene that regulates apoptosis
This is one of the BCL family that along with BCL-XL inhibits apoptosis. If it is activated by translocation [t(14:18)] –> follicular B cell lymphoma

Question 13

Identify, give normal function and the result of a mutation

Von Hippel-Lindau

Answer 13

Suppressor of hypoxia-inducible-factor 1α (HIF-1α), which is the transcription factor for VEGF. K/o, allow unrestrained angiogenesis
Renal cell CA

Question 14

Identify, give normal function and the result of a mutation

Nucleotide excision repair pathway

Answer 14

Normally corrects pyrimidine dimers (among other things) caused by UV damage
Autosomal recessive loss of function mutation: Xeroderma pigmentosum. Marked predisposition to skin CA