tumor suppressor genes Flashcards
Rb
retinoblastoma
osteosarcoma
bilateral (25% cases, all caused by inherited point mutations)
unilateral (75% cases, sporadic or inherited mutation)
mutations in BOTH alleles → cancer (2 hits = TWOmur suppressor)
inherited: 1 hit from parent gene, other sporadic: both sporadic
sp
retinoblastoma
tumor outgrows vascularity in retina
no red reflex (white reflex)
retinoblastoma
p53
more than 50% human cancers
APC
familial adenomatous polyposis → colon cancer
BRCA
breast cancer (3% cases) + ovarian cancer BReast CAncer
DPC (SMAD4)
Deleted in Pancreatic Cancer
DCC
Deleted in Colon Cancer
NF1
neurofibromatosis type 1 (fleshy nuerofibromas in skin)
on chrom 17 (17 words in neurofibromatosis)
NF2
neurofibromatosis type 2: bilateral acoustic schwannoma (neuroma)
on chrom 22 (NF 2)
WT1 and WT2
wilms tumor
VHL
von hippel-lindau
TSC
tuberous sclerosis