Neoplasia

Question 1

NF1(GAP)

Answer 1

Chr. 17 causes Neurofibroma, fibrosarcomas, café au lait spot, hamartomas

Question 2

NF2(Merlin’s Gene)

Answer 2

Chr. 22 causes bilateral Schwannomas, meningioma

Question 3

TGF-BETA

Answer 3

Pancreatic and colon

Question 4

APC (Adenomatous Polyposis Coli)

Answer 4

Chr. 5 causes Colon, pancreas, esophagous, stomach, lung

Question 5

VHL

Answer 5

Chr. 3 causes Pheochromocytoma, hereditary renal cell cancer, renal cysts, hemangioblastoma, retinal angiomas

Question 6

PTEN

Answer 6

Chr. 10 causes Thyroid, breast, endometrial cancer, prostate cancer

Question 7

WT1

Answer 7

Chr. 11 causes Wilm’s tumor (most common renal cancer in children)

Question 8

DPC4

Answer 8

Pancreatic adenocarcinomas

Question 9

DCC

Answer 9

Colorectal cancer

Question 10

INK4A/ARF

Answer 10

Familial melanoma, sporadic pancreatic adenocarcinoma, squamous CC of esophagous

Question 11

BCL2

Answer 11

T(14:18) Follicular B-cell lymphoma

Question 12

ATM

Answer 12

Malignant lymphoma - Ataxia telengectasia

Question 13

BRCA1

Answer 13

Chr. 17 causes Breast, ovary, prostate, colon

Question 14

BRCA2

Answer 14

Chr.13 causes Breast cancer

Question 15

RB

Answer 15

Chr. 13 causes Retinoblastoma, osteosarcoma, breast cancer

Question 16

P53

Answer 16

Chr. 17 causes Li-Fraumeni syndrome

Question 17

CDK4 Amplification

Answer 17

Melanoma, Glioblastoma, sarcoma

Question 18

CYCLIN E

Answer 18

Breast Cancer

Question 19

CYCLIN D Amplification

Answer 19

Breast and esophagus

Question 20

CYCLIN D TRANSLOCATION

Answer 20

T(11,14) mantle cell cancer

Question 21

L-MYC

Answer 21

(SCC?) of lungs

Question 22

N-MYC

Answer 22

Neuroblastoma, small cell ca. of lungs

Question 23

C-MYC

Answer 23

Burkitt’s lymphoma T(8:14)

Question 24

Beta CATENIN

Answer 24

Degraded by APC and leads to Hepatocellular carcinoma, hepatoblastoma

Question 25

BRAF

Answer 25

Upon pt mutation leads to melanoma

Question 26

ABL - tyrosine kinase

Answer 26

T(9:22) Acute lymphoblastic leukemia (AML) and chronic myeloid leukemia (CML)

Question 27

N-RAS

Answer 27

Melanomas, haematological malignancies

Question 28

K-RAS

Answer 28

Colon, pancreas, lungs

Question 29

H-RAS

Answer 29

Bladder and kidney cancer

Question 30

PDGF-R

Answer 30

Overexpression leads to Gliomas

Question 31

KIT

Answer 31

Receptor for stem cell factor and upon pt mutation leads to Gastrointestinal stromal carcinoma and seminomas

Question 32

RET

Answer 32

Receptor for neurotrophic factor and upon pt mutation Multiple endocrine neoplasia 2A and B, Familial Medullary thyroid carcinoma

Question 33

FMS

Answer 33

CSF-1 receptor and upon pt mutation leads to Leukemia

Question 34

ERB-B2

Answer 34

Breast and ovarian cancer

Question 35

ERB-B1

Answer 35

SCC of lungs and gliomas

Question 36

EGF

Answer 36

(TGF-alfa) overexpression leads to hepatocellular carcinoma, astrocytoma

Question 37

SIS

Answer 37

Overexpression leads to Astrocytoma, osteosarcoma

Question 38

Exonuclease (Mismatch Repair)

Answer 38

Hereditary Nonpolyposis Cancer Syndrome

Question 39

Bcl-2

Answer 39

Translocation t(14:18) Follicular Lymphoma (B Cell Lymphoma)

Question 40

Endonuclease

Answer 40

Xeroderma pigmentosum