Tumor markers and Oncogenes

riosju10's version from 2016-06-11 15:52

Tumor Related Information


Tumor Markers
PSAProstate Specific Antigen. Used to screen for prostate cancer, also up in BPH and prostitis.
Prostatic acid phosphataseProstate carcinoma.
CEACarcinoembryonic Antigen. Starting at the "C"hest, it's a marker in "C"arcinoma of breast, lung, stomach, pancreas and colon. Nonspecific seen in 70% of colorectal and pancreatic, also made by gastric and breast.
AFPAlpha-fetoprotein hepatocellular carcinomas. Nonseminomatous germ cell tumor (e.g., testis, ovary)
hCGbeta-hCG. "H"ydatidiform moles and "C"horiocarcinomas ("G"estational trophoblastic disease). Commonly associated w/ pregnancy (can be detected 1 week after fertilization, 2 weeks by at home pregnancy test)
CA-125Ovarian cancer (ovarian epithelial carcinoma)
S-100Melanoma, Astrocytomas and Schwannomas
Alkaline PhosphataseMetastasis to bone, liver, Paget's disease of bone, seminoma
BombesinNeuroBLASToma (Bombs Blast your Brain). Lung (small cell) cancer, and gastric cancer.
TRAPTartrate Resistant Acid Phosphatase. Hairy cell leukemia, a Chronic Lymphocytic Leukemia (CLL) of B-cells (TRAP the "Hairy" animal and B-cells are "TRAP"ped in the spleen)
CA 19-9Pancreatic adenocarcinoma
CalcitoninMedullary thyroid carcinoma
CA 15-3/CA 27-29breast cancer
Chromograninneuroendocrine tumors, carcinoid tumor


Oncogenes - Gain of function → ↑cancer risk. Need to only 1 allele.
Tumor Suppressors - Loss of function → ↑cancer risk. Both alleles must be lost for expression of disease
GeneOncogene/Tumor SuppressorAction of geneAssociated tumors
ABLOncogeneTyrosine kinaseChronic Myelogenous Leukemia (CML)
APCTumor suppressor: Mutated in sporadic colorectal cancers and cancers associated with familial polyposis coli or familial adenomatous polyposis (FAP)
BCL1OncogeneCyclin geneIn the case t(11;14) - Mantle cell lymphoma (Cyclin D1 activation) - that brings the Cyclin gene on Chr 11 to the Ig enhancer gene on Chr 14
BCL2OncogeneAnti-apoptosis geneIn t(14;18) - Follicular lymphomas - BCL2 gene is translocated near Ig heavy-chain gene, which enhances it leading to continuous stimulation.
BCR-ABLHybrid gene (Philadelphia chromosome translocation)Philadelphia chromosome: t(9;22) - Chronic Myelogenous Leukemia (CML)
BRAFTumor suppressorGene product = B-rafMelanoma
BRCA1Tumor suppressorDNA repair genePresent in familial cases of breast and ovarian cancer
BRCA2Tumor suppressorDNA repair geneInvolved in familial cases of breast and ovarian cancer
C-KITOncogeneCytokine receptorGastrointestinal stromal tumor (GIST)
C-MYCOncogeneTranscription factor geneIn t(8;14) - Burkitt's lymphoma (c-myc activation)
DCCTumor suppressor: Deleted in Colon Cancer
DPC4Tumor suppressor: Deleted in Pancreatic Cancer
EGFEpidermal growth factor gene
ERBB2(HER2/neu)OncogeneGrowth factor receptor gene, product = tyrosine kinaseOverexpressed in some sporadic breast cancers, also involved in ovarian and gastric carcinomas
hMSH2Repair DNA damageMicrosatellite instability occurs in mutations of this gene
HST1Fibroblast growth factor geneGastric cancers
IL2Growth factor geneOverexpression is present in some T cell neoplasms
K-RASGTP-binding protein genePresent in many cancers. In addition to APC and p53 add to development of colonic adenocarcinoma.
L-MYCOncogeneProduct = Transcription factorLung tumor
LynTyrosine kinase geneImmunodeficiency states
NF1Tumor suppressorGTPase-activating protein: Converts RAS (GTP-bound) to inactive RAS (GDP-bound)Neurofibromatosis Type 1: Loss of NF1 leads to RAS being trapped in the active signal-transmitting stage.
NF2Tumor supressorProduct = Merlin (schwannomin) proteinNeurofibromatosis Type 2, on Chr 22
N-MYConcogeneTranscription factor geneNeuroblastoma
p16Tumor suppressor: Melanoma
p53Tumor suppressorDNA damage response gene: Transcription factor for p21, keeps cell cycle arrested in late G1 phase so DNA damage can be repaired before it is replicated.Most common genetic mutation in human cancers (lung, colon, and breast cancers); Li-Fraumeni syndrome
RASCell growth, differentiation, survival
RBTumor suppressorRetinoblastoma gene: Controls G1→S cell cycle transition, inhibits E2FRetinoblastoma: two-hit mutation causes loss of important cell-cycle checkpoint
RETOncogeneTyrosine kinaseMultiple Endocrine Neoplasia (MEN) Types 2A and 2B
VHLTumor suppressor gene (von Hippel-Lindau Disease)
WT1Tumor suppressor: Wilms' Tumor (nephroblastoma)


First Aid - Autoantibodies
First Aid - Important Cytokines
First Aid - Cell Surface Proteins