Neoplasia: Genes Flashcards

1
Q

APC: function
Familial syndrome
Sporadic cancer

A

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

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2
Q

NFI: function
Familial syndrome
Sporadic cancer

A

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

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3
Q

NF2: function
Familial syndrome
Sporadic cancer

A

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

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4
Q

PITCH: function
Familial syndrome
Sporadic cancer

A

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

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5
Q

PTEN: function
Familial syndrome
Sporadic cancer

A

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

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6
Q

SMAD2, SMAD4: function
Familial syndrome
Sporadic cancer

A

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

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7
Q

Rb: function
Familial syndrome
Sporadic cancer

A

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

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8
Q

CDKN2A: function
Familial syndrome
Sporadic cancer

A

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

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9
Q

VHL: function
Familial syndrome
Sporadic cancer

A

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

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10
Q

CDH1: function
Familial syndrome
Sporadic cancer

A

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

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11
Q

TP53: function
Familial syndrome
Sporadic cancer

A

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

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12
Q

BRCA1 BRAC2: function
Familial syndrome
Sporadic cancer

A

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

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13
Q

MSH2, MLH1, MSH6: function
Familial syndrome
Sporadic cancer

A

DNA mismatch repair
hereditary nonpolyposis colon carcinoma
colonic and endometrial carcinoma

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14
Q

WT1: function
Familial syndrome
Sporadic cancer

A

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

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15
Q

MEN1: function
Familial syndrome
Sporadic cancer

A

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

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16
Q

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

A

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

17
Q

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

A

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

18
Q

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

A

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

19
Q

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

A

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

20
Q

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

A

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

21
Q

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

A

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

22
Q

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

A

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

23
Q

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

A

function: transcription factor
mechanism: amplification
associated tumor: neuroblastoma

24
Q

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

A

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

25
Q

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

A

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

26
Q

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

A

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