Cancer Flashcards
Bcl2
Oncogene
Anti-apoptotic protein upregulated in some chromosome translocations (some lymphomas)
BCR-ABL
Oncogene
Fused in chronic myeloid leukaemia
Beta-catenin
Oncogene
Mutated in a small percentage of colon cancers that don’t have APC mutations (interacts with APC)
BRAF
Oncogene
Downstream of Ras, mutated in melanomas (activated by other mechanisms including fusion)
CyclinD1
Oncogene
Activated by amplification in breast cancer
With CDK4, controls Rb-1
ERBB
HER2
Oncogenes
EGFRs (RTKs), HER2 is the target of herceptin
ERG
Oncogene, transcription factor
Fusions with TMPRSS2 found in ~50% of prostate cancers
MLL
Oncogene
Modifies histones (methyl transferase)
Fused by translocation in leukaemias
MYC
Oncogene, transcription factor
Powerful and widely abnormal oncogenes
PIK3CA
Oncogene, PI3K subunit
Mutated in 40% of breast cancers
Ras
Oncogene, G-proteins in MAPK pathway
Point mutation, KRAS mutated in 50% of colon carcinomas
TCF3/4
Oncogenes, downstream of Wnt pathway
Gene fusions occur in colon cancer
APC
Tumour suppressor
Interacts with beta-catenin
Inactivated in most colon carcinomas, inherited mutation in hereditary polyposis coli
BRCA1
Tumour suppressor
Strong hereditary predisposition to breast cancer
(not related to BRCA2)
BRCA2
Tumour suppressor
Strong hereditary predisposition to breast cancer
Component of homologous recombination DNA repair
p16
Tumour suppressor
Inhibits CDK4/cyclinD1
Often deleted
MLH1/MSH2
Tumour suppressors
Recognition proteins in mismatch repair complex
Mutated in some non-hereditary colon cancers and hereditary colon cancer (HNPCC)
MLH1 frequently deactivated by promoter methylation
p53
Tumour suppressor
Halts cell cycle and initiates apoptosis
Mutated in 50% or more cancers
PTEN
Tumour suppressor
Phosphatase which antagonises PI3K
Rb-1
Tumour suppressor
Nuclear protein which halts the cell cycle at the G1/S checkpoint
SMAD4
Tumour suppressor
Downstream effector in TGFβ pathway
Mutated in some colon carcinomas
TGFβ
Tumour suppressor
Inhibitory growth factors which regulate cell differentiation