Neoplasia Flashcards
NF1(GAP)
Chr. 17 causes Neurofibroma, fibrosarcomas, café au lait spot, hamartomas
NF2(Merlin’s Gene)
Chr. 22 causes bilateral Schwannomas, meningioma
TGF-BETA
Pancreatic and colon
APC (Adenomatous Polyposis Coli)
Chr. 5 causes Colon, pancreas, esophagous, stomach, lung
VHL
Chr. 3 causes Pheochromocytoma, hereditary renal cell cancer, renal cysts, hemangioblastoma, retinal angiomas
PTEN
Chr. 10 causes Thyroid, breast, endometrial cancer, prostate cancer
WT1
Chr. 11 causes Wilm’s tumor (most common renal cancer in children)
DPC4
Pancreatic adenocarcinomas
DCC
Colorectal cancer
INK4A/ARF
Familial melanoma, sporadic pancreatic adenocarcinoma, squamous CC of esophagous
BCL2
T(14:18) Follicular B-cell lymphoma
ATM
Malignant lymphoma - Ataxia telengectasia
BRCA1
Chr. 17 causes Breast, ovary, prostate, colon
BRCA2
Chr.13 causes Breast cancer
RB
Chr. 13 causes Retinoblastoma, osteosarcoma, breast cancer
P53
Chr. 17 causes Li-Fraumeni syndrome
CDK4 Amplification
Melanoma, Glioblastoma, sarcoma
CYCLIN E
Breast Cancer
CYCLIN D Amplification
Breast and esophagus
CYCLIN D TRANSLOCATION
T(11,14) mantle cell cancer
L-MYC
(SCC?) of lungs
N-MYC
Neuroblastoma, small cell ca. of lungs
C-MYC
Burkitt’s lymphoma T(8:14)
Beta CATENIN
Degraded by APC and leads to Hepatocellular carcinoma, hepatoblastoma
BRAF
Upon pt mutation leads to melanoma
ABL - tyrosine kinase
T(9:22) Acute lymphoblastic leukemia (AML) and chronic myeloid leukemia (CML)
N-RAS
Melanomas, haematological malignancies
K-RAS
Colon, pancreas, lungs
H-RAS
Bladder and kidney cancer
PDGF-R
Overexpression leads to Gliomas
KIT
Receptor for stem cell factor and upon pt mutation leads to Gastrointestinal stromal carcinoma and seminomas
RET
Receptor for neurotrophic factor and upon pt mutation Multiple endocrine neoplasia 2A and B, Familial Medullary thyroid carcinoma
FMS
CSF-1 receptor and upon pt mutation leads to Leukemia
ERB-B2
Breast and ovarian cancer
ERB-B1
SCC of lungs and gliomas
EGF
(TGF-alfa) overexpression leads to hepatocellular carcinoma, astrocytoma
SIS
Overexpression leads to Astrocytoma, osteosarcoma
Exonuclease (Mismatch Repair)
Hereditary Nonpolyposis Cancer Syndrome
Bcl-2
Translocation t(14:18) Follicular Lymphoma (B Cell Lymphoma)
Endonuclease
Xeroderma pigmentosum