ABL: Chronic myeloid leukemia
ALK: Large cell lymphoma, non–small cell lung cancer
BRAF: Melanoma
RAF is rapidly accelerated fibrosarcoma
BCL-2: Follicular lymphoma(t(14;18)), Diffuse large B cell lymphoma
BCL -2 mutations are associated with diffuse large B -c ell l ymphoma.
HER1: Squamous cell lung cancer
HER2/neu: Breast cancer , ovarian cancer
MYC: Neuroblastoma (NMYC), small cell lung cancer (LMYC), Burkitt lymphoma
RET: Medullary thyroid cancer , pheochromocytoma
Mutations are associated with MEN2
KRAS: Colorectal, lung, pancreatic cancers
RAS GTPase
EGFR leads to downstream activation of KRAS.
Tumors with KRAS-activating mutations are resistant to anti-EGFR agents as they have a constitutive activation of a downstream signal that is independent of EGFR stimulation or blockade.
Anti-oncogenes (tumor suppressors)
APC/β catenin: Colorectal cancer , pancreatic cancer
BRCA1, BRCA2: Breast cancer , ovarian cancer
Involved in repair of double-stranded DNA breaks
NF1: Neuroblastoma , sarcoma
RB (RB1): Retinoblastoma, osteosarcoma
Retinoblastoma protein (Rb protein): causes cell cycle arrest at the G1 phase by inhibiting E2F transcription factor.
Needs to be phosphorylated (rendering it inactive) to allow progression through the G1/S checkpoint
TP53: Most cancers, Li-Fraumeni (SBLA) syndrome (multiple malignancies at early age; Sarcoma, Breast/Brain, Lung/Leukemia, Adrenal gland)
Encodes the p53 protein that suppresses cell division and regulates DNA repair and apoptosis.
VHL: Renal cell cancer
WT1: Wilms tumor
