Neoplasia: Genes

Question 1

APC: function
Familial syndrome
Sporadic cancer

Answer 1

inhibit WNT signaling
familial colonic polyps and carcinomas
stomach, colon pancreatic carcinomas; melanoma

Question 2

NFI: function
Familial syndrome
Sporadic cancer

Answer 2

inhibitor of RAS/MAPK signaling
neurofibromatosis type 1
neuroblastoma, juvenile myeloid lukemia

Question 3

NF2: function
Familial syndrome
Sporadic cancer

Answer 3

cytoskeletal stability, hippo pathway
neurofibrimatosis type 2
acoustic schwannoma and meningioma

Question 4

PITCH: function
Familial syndrome
Sporadic cancer

Answer 4

inhibitor of hedgehog signaling
Gorlin syndrome
basal cell carcinoma, medulloblastoma, several benign tumors

Question 5

PTEN: function
Familial syndrome
Sporadic cancer

Answer 5

inhibitor of PI3K/AKT signaling
Cowden snydrome
diverse cancers– carcinomas and lymphoid tumors

Question 6

SMAD2, SMAD4: function
Familial syndrome
Sporadic cancer

Answer 6

component of the TGFB signaling pathway, repressor of MYC and CDK4 expression, inducer of CDK expression
juvenile polyposis
frequently mutated in colonic and pancreatic cancer

Question 7

Rb: function
Familial syndrome
Sporadic cancer

Answer 7

inhibit G1/S transition in cell cycle
familial retinoblastoma syndrome
rentinoblastoma, osteosarcoma, carcinoma of breast, colon, lung

Question 8

CDKN2A: function
Familial syndrome
Sporadic cancer

Answer 8

codes for P16/INK4a and p14/ARF
p16: negative regulator of cyclin dependent kinase
p14: indirect activator of p53
familial melanoma
pancreatic, breast, and esophageal carcinoma, melanoma, certain leukemia

Question 9

VHL: function
Familial syndrome
Sporadic cancer

Answer 9

inhibitor of hypoxia induced transcription factor
Von Hippel Lindau syndrome
cerebellar hemangiobalstoma, retinal angioma, renal cell carcinoma

Question 10

CDH1: function
Familial syndrome
Sporadic cancer

Answer 10

codes for E-cadherin
cell adhesion and inhibition of cell motility
familial gastric cancer
gastric carcinoma, lobular breast carcinoma

Question 11

TP53: function
Familial syndrome
Sporadic cancer

Answer 11

codes p53
cell cycle arrest and apoptosis in response to DNA damage
Li-Fraumeni syndrome
most human cancers

Question 12

BRCA1 BRAC2: function
Familial syndrome
Sporadic cancer

Answer 12

Repair of double stranded breaks in DNA
familial breast and ovarian carcinoma
breast carcinoma, carcinoma of male breast, ovarian carcinoma, chronic lymphocytic leukemia

Question 13

MSH2, MLH1, MSH6: function
Familial syndrome
Sporadic cancer

Answer 13

DNA mismatch repair
hereditary nonpolyposis colon carcinoma
colonic and endometrial carcinoma

Question 14

WT1: function
Familial syndrome
Sporadic cancer

Answer 14

transcription factor
familial wilms tumor
wilms tumor (pediatric renal tumo) certain leukemias

Question 15

MEN1: function
Familial syndrome
Sporadic cancer

Answer 15

transcription factor
multiple endocrine neoplasia
pituitary, parathyroid, pancreatic endocrine tumors

Question 16

category: growth factor
gene: PDDGF
function:
mechanism:
associated tumor:

Answer 16

function: platelet derived growth factor
mechanism: overexpression, autocrine loop
associated tumor: astrocytoma (tumor of the astrocytes of the brain)

Question 17

category: growth factor receptor
gene: ERBB2 (Her2/Neu
function:
mechanism:
associated tumor:

Answer 17

function: epidermal growth factor
mechanism: amplification
associated tumor: breast carcinomas

Question 18

category: growth factor receptor
gene: RET
function:
mechanism:
associated tumor:

Answer 18

function: neural growth factor receptor
mechanism: point mutation
associated tumor: MEN 2a, MEN 2b, sporadic medullary carcinoma of the thyroid

Question 19

category: signal transducer
gene: KIT
function:
mechanism:
associated tumor:

Answer 19

function: stem cell growth factor receptor
mechanism: point mutation
associated tumor: GI stromal tumor

Question 20

category: signal transducer
gene: RAS gene family
function:
mechanism:
associated tumor:

Answer 20

function: GTP binding protein
mechanism: point mutation
associated tumor: carcinoma, melanoma, lymphoma– wide variety

Question 21

category: nuclear regulators
gene: ABL
function:
mechanism:
associated tumor:

Answer 21

function: tyrosine kinase
mechanism: Translocation (9, 22) w BCR
associated tumor: CML and types of ALL

Question 22

category: nuclear regulators
gene: C-MYC
function:
mechanism:
associated tumor:

Answer 22

function: transcription factor
mechanism: T(8;14)–> switches igH and MYC to turn it on
associated tumor: Burkitt lymphoma

Question 23

category: nuclear regulator
gene: N-MYC
function:
mechanism:
associated tumor:

Answer 23

function: transcription factor
mechanism: amplification
associated tumor: neuroblastoma

Question 24

category: nuclear regulator
gene: L-MYC
function:
mechanism:
associated tumor:

Answer 24

function: transcription factor
mechanism: amplification
associated tumor: lung carcinoma (small cell)

Question 25

category: cell cycle regulator gene: CCND1 function: mechanism: associated tumor:

Answer 25

function: cyclin mechanism: T(11;14) associated tumor: mantle cell lymphoma

Question 26

category: cell cycle regulator gene: CDK4 function: mechanism: associated tumor:

Answer 26

function: cyclin dependent kinase mechanism: amplification associated tumor: melanoma