cancer genes/markers Flashcards
BCR-ABL
oncogene. t(9,22). tyrosine kinase. defines CML, found in some ALL
BCL-2
oncogene. t(14,18). antiapoptotic molecule that prevents cytochrome c from leaking out. follicular and undifferentiated lymphomas
BRAF
oncogene. serine/threonine kinase. melanoma, NH lymphoma
c-kit
oncogene. pt. mutation. cytokine receptor - stem cell GFR. GIST
c-myc
oncogene. t(8,14). transcription factor. burkitts
HER2/neu
oncogene. amplification. tyrosine kinase - epidermal GFR. breast, ovarian, gastric CA
L-myc
oncogene. amplification. transcription factor. Lung tumor - small cell
N-myc
oncogene. amplification. transcription factor. Neuroblastoma
RAS
oncogene. pt mutation. GTPase. colon, lung, pancreatic, lymphoma, melanoma.
RET
oncogene. pt mutation. tyrosine kinase - neural GFR. MEN 2a + 2b, medullary thyroid CA
PGDFB
oncogene. growth factor. overexpression -> autocrine loop -> astrocytoma.
CCND1
oncogene. t(11,14). cyclin D1. mantle cell lymphoma
CDK4
oncogene. amplification. cyclin-dependent kinase. melanoma
APC
tumor suppressor gene. colorectal CA (associated w/FAP)
BRCA1/2
tumor suppressor gene. breast and ovarian. DNA repair protein
DCC
tumor suppressor gene. colon: Deleted in Colon Cancer
DPC4/SMAD4
tumor suppressor gene. pancreatic CA. Deleted in Pancreatic Cancer
MEN1
tumor suppressor gene. menin.
NF1
tumor suppressor gene. Ras GTPase activating protein (neurofibromin)
NF2
tumor suppressor gene. merlin (schwannomin) protein
p16
tumor suppressor gene. melanoma. cyclin-dependent kinase inhibitor 2A
p53
tumor suppressor gene. most human CA. 1 copy missing in Li-Fraumeni. transcription factor for p21, blocks G1->S phase
PTEN
tumor suppressor gene. breast, prostate, endometrial
Rb
tumor suppressor gene. retinoblastoma, osteosarcoma. binds E2F (a transcription factor), preventing G1->S phase
TSC1
tumor suppressor gene. tuberous sclerosis. hamartin protein
TSC2
tumor suppressor gene. tuberous sclerosis. tuberin protein
VHL
tumor suppressor gene. von Hippel Lindau, renal cell CA. inhibits hypoxia inducible factor 1a
WT1/WT2
tumor suppressor gene. Wilms Tumor (nephroblastoma)
alk phos
bone/liver mets, paget dz of bone, seminoma (placental ALP)
AFP
HCC, hepatoblastoma, yolk sac (endodermal sinus) tumor mixed germ cell tumor. normally made by fetus. transiently elevated in pregnancy.
beta-hCG
hydatidiform moles and choriocarcinomas, testicular CA, mixed germ cell tumor. produced by syncytiotrophoblasts
CA15-3/CA27-29
breast CA
CA19-9
pancreatic adenoCA
CA125
ovarian CA
calcitonin
medullary thyroid CA
CEA
CarcinoEmbryonic Ag. nonspecific. ~70% of colorectal and pancreatic CA. also breast, gastric, medullary thyroid CA
chromogranin
neuroendocrine tumors/carcinoid
PSA
prostate CA. also BPH and prostatisis
EBV
burkitt, H lymphoma, nasopharyngeal CA, primary CNS lymphoma (in immunocompromised)
HBV, HCV
HCC
HHV-8
kaposi (AIDS: antiretrovirals, transplant: dec. suppression, old eastern euro man: excision).
H. pylori
gastric adenocarcinoma, MALT lymphoma
HTLV-1
adult T-cell leukemia/lymphoma
liver fluke (clonorchis sinensis)
cholangiocarcinoma
schistosoma haematobium
bladder CA (squamous cell)
CAs w/psammoma bodies
PSaMMoma! Papillary CA of thyroid, Serous papillary cystadenocarcinoma of the ovary, Meningioma, Malignant mesothelioma