oncogenes and tumor supressor

Question 1

ALK

Answer 1

Oncogene
Receptor Tyrosine Kinase
associated with: lung adenocarcinoma

Question 2

BCR-ABL

Answer 2

Oncogene
Non receptor tyrosine kinase
9:22 with BCR
associated with:CML, ALL

Question 3

BCL-2

Answer 3

Oncogene
Antiapoptotic molecule:
Follicular and Diffuse large B cell Lymphomas

Question 4

BRAF

Answer 4

Oncogene
Serine/threonine kinase
Melanoma, non Hodgkin lymphoma, papillary thyroid ca, hair cell leukemia

Question 5

C-kit

Answer 5

Oncogene
stem cell growth factor receptor 
point mutation 
Cytokine receptor 
gastrointestinal stromal tumor

Question 6

C-MYC

Answer 6

Oncogene
Transcription factor
8-14 Burkitt lymphoma involve IgH

Question 7

HER2/neu (c-erbB2)

Answer 7

Oncogene
Epidermal growth factor receptor - amplification
receptor tyrosine kinase
Breast and gastric carcinomas

Question 8

JAK2

Answer 8

Oncogene
Tyrosine Kinase
Chronic myeloproiferative disorders

Question 9

KRAS

Answer 9

Oncogene
GTPas- G protein intracellular
point mutation
Colon cancer, lunch danger, pancreatic cancer

Question 10

MYCL1

Answer 10

Oncogene
transcription factor
lung cancer

Question 11

N-myc (MYCN)

Answer 11

• Oncogene
• Transcription factor- capable of binding DNA, and can be dented by DNA probes
• amplification
• Neuroblastoma

Question 12

RET

Answer 12

Oncogene
Neuroal growth factor receptor 
Point mutation 
Receptor Tyrosine kinase 
MEN 2a 2b, papillary thyroid cancer

Question 13

Oncogene

Answer 13

Gain of function mutation- converts proto-oncogenes to oncogene to increase cancer risk.
requires one damage to one allele of a proto-oncogene

Question 14

PDGFB

Answer 14

oncogenes
Platelet derived growth factor
astrocytoma

Question 15

CCND1 (cyclin D1)

Answer 15

Oncogene
Cyclin
11:14 mantle cell cyclin D1 activation over expression

Question 16

CKD4

Answer 16

Oncogene
Cyclin dependent kinase
amplification
Melanoma

Question 17

Tumor suppressor gene

Answer 17

loss of function, increase cancer risk.
Both alleles of a tumor suppressor gene must be lost for expression
P53-regulate progression of the cell cycle from G1-S. P53 upregulates BAX disrupts bcl2 cause cytochrome C to leak out

Question 18

APC

Answer 18

Tumor Suppressor gene
Negative regulator of B-Catenin/WNT pathway
Colorectal Cancer (association with FAP)

Question 19

BRCA1/BRCA2

Answer 19

Tumor Suppressor gene
Dna Repair Portein
Breast, Ovarian, and pancreatic cancer

Question 20

CDKN2A

Answer 20

Tumor Suppressor gene
p16, blick G1 to S phase
Melanoma, Pancreatic cancer

Question 21

DCC

Answer 21

Tumor Suppressor gene

DCC- Deleted in colon cancer

Question 22

SMAD4 (DPC4)

Answer 22

Tumor Suppressor gene

DPC deleted in pancreatic cancer

Question 23

MEN1

Answer 23

Tumor Suppressor gene Chromosome 11
Menin

Pituitary tumors(prolactin or GH0

Pancreatic Endocrine Tumors ( Zollinger , insulinomas, vipomas, glucagonomas

Parathyroid adenomas

can also see angiofibromas, collagenous, meningiomas

Question 24

NF1

Answer 24

Tumor Suppressor gene Chromosome 17
Neurofibromin is a negative Ras GTPase activating protein

neurofibromatosis Type 1: AD, 100% penetrance
presentation: cafe au last spots, intellectual disability, cutaneous neurofibromas, litchi nodules ( pigmented iris hamartomas, Optic gloms, pheochromocytoma, seizure, and neurologic signs from meningioma, and sphenoid dysplasia

Question 25

NF2

Answer 25

Tumor Suppressor gene chromosome 22 Merlin (schwannomin) protein NF2: AD, bilateral vestibular schwannomas, Juvenal cataracts, meningiomas, ependymomas

Question 26

PTEN

Answer 26

Tumor Suppressor gene Negative regulator of PI2k/AKT pathway breast, prostate, endometrial cancer

Question 27

RB

Answer 27

Tumor Suppressor gene Inhibits E2F: blocks G1-S phase Retinoblastoma, osteosarcoma

Question 28

TP53

Answer 28

Tumor Suppressor gene P53 activates p21, blocks G1-S phase Li fraumeni syndrom SBLA ( sarcoma, breast, leukemia, Adrenal Gland )

Question 29

TSC1

Answer 29

Tumor Suppressor gene Chromosome 9 Hamartin protein Tuberous sclerosis:AD, Hamartomas in CNS and skin, Angiofibromas, mitral regurgitation, ashleaf spots, cardiac rhabdomyoma, mental retardation, renal angiomylopoma, Seizure , Shagreen patches -Increase incidence of subependymal (periventuclar mass) Giant cell astrocytoma and unfurl fibrous More likely to have autism

Question 30

TSC2

Answer 30

Tumor Suppressor gene Chromosome 16 Tuberlin protein Tuberous sclerosis:AD, Hamartomas in CNS and skin, Angiofibromas, mitral regurgitation, ashleaf spots, cardiac rhabdomyoma, mental retardation, renal angiomylopoma, Seizure , Shagreen patches -Increase incidence of subependymal (periventuclar mass) Giant cell astrocytoma and unfurl fibrous More likely to have autism

Question 31

VHL

Answer 31

Tumor Suppressor gene chromosome 3p Inhibits hypoxia inducible factor 1a Von Hippel-lindau disease AD :renal cell carcinoma bilateral, hemangioblastoma, angiomatosis, pheochromocytoma

Question 32

WT1

Answer 32

Tumor Suppressor gene Transcriptions factor the regulates urogenital development Wilms tumor ( nephroblastoma ) - contains embryonic glomerular structures. Presents with large palpable, unilateral flank mass and possible HTN can be a part of : 1. WAGR complex: wilms tumor, aniida , GU malformation, Mental retardation with WT1 deletion 2. Densy Drash Syndrom: Wims dumor, diffuse mesangial sclerosis , dysgenesis of gonads ( male pseudohermaphroditism, wt1 mutation 3. beckwith-wiedemann Syndrome: films tumor, macroglossia, organomeagly. Mutation of short arm 11