genes proteins pathways Flashcards
(16 cards)
PIK3CA
PI3K (p110α) PI3K/AKT/mTOR signaling> H1047R, E545K — breast, endometrial cancer
TP53
p53 Tumor suppressor, DNA repair, apoptosis> Loss-of-function in many cancers
KRAS
KRAS MAPK pathway (RAS/RAF/MEK/ERK)> G12D, G12V — colorectal, lung, pancreatic CA
NRAS
NRAS MAPK signaling> G12D, Q61R — melanoma
HRAS
HRAS MAPK signaling> Bladder, thyroid cancer
BRAF
BRAF (V600E) MAPK pathway (downstream of RAS)> V600E in melanoma, colorectal CA
EGFR
EGFR Receptor tyrosine kinase (RTK)> Exon 19 del, L858R — lung adenocarcinoma
HER2 (ERBB2)
HER2 RTK — breast cancer> Amplification in HER2+ breast CA
ALK
ALK fusion protein RTK — mostly in fusions (EML4-ALK)> Targetable in NSCLC
PTEN
PTEN Tumor suppressor, antagonizes PI3K> Often deleted or mutated
BRCA1, BRCA2
BRCA1/BRCA2 Homologous recombination repair> Germline mutations → breast, ovarian CA risk
CDKN2A
p16INK4a, p14ARF Cell cycle inhibitors> Frequently deleted in melanoma, pancreatic CA
MYC
c-Myc Transcription factor, proliferation> Overexpressed in many cancers
MET
MET (c-Met) RTK involved in cell motility> Exon 14 skipping — lung cancer
APC
APC Wnt pathway — tumor suppressor> Mutated in familial adenomatous polyposis
CTNNB1
β-catenin Wnt pathway (oncogene)> Stabilizing mutations → colon, liver CA