Neoplasia Flashcards

1
Q

NF1(GAP)

A

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

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2
Q

NF2(Merlin’s Gene)

A

Chr. 22 causes bilateral Schwannomas, meningioma

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3
Q

TGF-BETA

A

Pancreatic and colon

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4
Q

APC (Adenomatous Polyposis Coli)

A

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

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5
Q

VHL

A

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

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6
Q

PTEN

A

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

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7
Q

WT1

A

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

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8
Q

DPC4

A

Pancreatic adenocarcinomas

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9
Q

DCC

A

Colorectal cancer

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10
Q

INK4A/ARF

A

Familial melanoma, sporadic pancreatic adenocarcinoma, squamous CC of esophagous

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11
Q

BCL2

A

T(14:18) Follicular B-cell lymphoma

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12
Q

ATM

A

Malignant lymphoma - Ataxia telengectasia

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13
Q

BRCA1

A

Chr. 17 causes Breast, ovary, prostate, colon

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14
Q

BRCA2

A

Chr.13 causes Breast cancer

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15
Q

RB

A

Chr. 13 causes Retinoblastoma, osteosarcoma, breast cancer

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16
Q

P53

A

Chr. 17 causes Li-Fraumeni syndrome

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17
Q

CDK4 Amplification

A

Melanoma, Glioblastoma, sarcoma

18
Q

CYCLIN E

A

Breast Cancer

19
Q

CYCLIN D Amplification

A

Breast and esophagus

20
Q

CYCLIN D TRANSLOCATION

A

T(11,14) mantle cell cancer

21
Q

L-MYC

A

(SCC?) of lungs

22
Q

N-MYC

A

Neuroblastoma, small cell ca. of lungs

23
Q

C-MYC

A

Burkitt’s lymphoma T(8:14)

24
Q

Beta CATENIN

A

Degraded by APC and leads to Hepatocellular carcinoma, hepatoblastoma

25
Q

BRAF

A

Upon pt mutation leads to melanoma

26
Q

ABL - tyrosine kinase

A

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

27
Q

N-RAS

A

Melanomas, haematological malignancies

28
Q

K-RAS

A

Colon, pancreas, lungs

29
Q

H-RAS

A

Bladder and kidney cancer

30
Q

PDGF-R

A

Overexpression leads to Gliomas

31
Q

KIT

A

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

32
Q

RET

A

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

33
Q

FMS

A

CSF-1 receptor and upon pt mutation leads to Leukemia

34
Q

ERB-B2

A

Breast and ovarian cancer

35
Q

ERB-B1

A

SCC of lungs and gliomas

36
Q

EGF

A

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

37
Q

SIS

A

Overexpression leads to Astrocytoma, osteosarcoma

38
Q

Exonuclease (Mismatch Repair)

A

Hereditary Nonpolyposis Cancer Syndrome

39
Q

Bcl-2

A

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

40
Q

Endonuclease

A

Xeroderma pigmentosum