Genes MCM 2

Question 1

ABL (BCR/ABL)

Answer 1

ABL is the oncogene
Activation of ABL by BCR/ABL translocation, t(9;22), in chronic myelogenous leukemia
Nonreceptor tyrosine kinases

Question 2

APC

Answer 2

Tumor suppressor gene
Normal APC binds and inhibits β-catenin; prevents activation of transcription factors by β-catenin
Mutation leads to Familial adenomatous polyposis coli (FAP; hundreds of colon polyps)
FAP tumors more likely to have KRAS and TP53 mutations

Question 3

BCL-2

Answer 3

Translocation
follicular lymphoma

Question 4

BRCA 1

Answer 4

Defective DNA repair by homologous recombination
Found in familial breast cancer

Question 5

BRCA 2

Answer 5

Defective DNA repair by homologous recombination
Found in familial breast cancer
Causes breast cancer in males

Question 6

CDK

Answer 6

Cyclin dependent kinase
Cell cycle regulator
CDK4 amplification in melanoma, glioblastoma

Question 7

Cyclin D1

Answer 7

Oncogene
Overexpression in mantle cell lymphoma

Question 8

EGFR (ERB-B1, ERB-B2/Her-2-neu)

Answer 8

Oncogenes
Growth factor receptors with tyrosine kinase activity
ERB-B1 (EGFR): Point mutation in lung cancer
ERB-B2 (HER-2/neu EGF receptor): Overexpression in breast cancer

Question 9

FGF

Answer 9

Growth factor important for tumor angiogenesis

Question 10

JAK2

Answer 10

Oncogene
JAK/STAT signal transduction
point mutations in polycythemia vera

Question 11

MLH

Answer 11

MLH 1
Defective mismatch repair gene
HNPCC/Lynch syndrome
BRAF mutation can cause methylation silencing of MLH1 (not Lynch Syndrome in this case since not inherited)

Question 12

MSH

Answer 12

MSH2, MSH6
Defective mismatch repair gene
HNPCC/Lynch syndrome

Question 13

MYC (C-MYC, N-MYC)

Answer 13

C-MYC: translocation chromosome change; Burkitt lymphoma
N-MYC: gene amplification; neuroblastoma

Question 14

PD-1/PD-L1

Answer 14

ligand that modulates immunosuppression (released by tumors to evade host immune system)
inhibitory receptors on T cells

Question 15

PI3K/AK

Answer 15

Downstream from RAS
Mutation leads to sustained activation so targeting RAS in tumor would be ineffective

Question 16

RAF

Answer 16

Important in RAS phosphorylation pathway
Downstream from RAS
Mutation leads to sustained activation so targeting RAS in tumor would be ineffective

Question 17

RAS

Answer 17

Point mutation
Most common mutation found in many cancers
Tumor suppressor gene

Question 18

RB

Answer 18

Chromosome deletions
Two mutations lead to retinoblastoma
Binds E2F, important cell cycle check

Question 19

RET

Answer 19

Oncogene
Multiple endocrine neoplasia and familial medullary thyroid carcinoma

Question 20

TP53

Answer 20

-Most common genetic defect in human neoplasms
-Upregulated by DNA damage, hypoxic stress, unregulated oncogene expression
-Accumulation of p53 protein leads to cell cycle arrest at G1/S checkpoint (transient) or senescence or apoptosis
-Activation of genes involved in DNA repair

Question 21

VEGF

Answer 21

Proangiogenic factor

Question 22

Lynch Syndrome

Answer 22

Polyps more frequent in right ascending colon
MLH1, MSH2, MSH6, PMS2