Cancer Flashcards
Retinoblastoma (Rb) genes
1/4 of cases are b/l
all b/l cases are inherited point mutations
3/4 are u/l, most of these are sporadic mutations
2 hit hypothesis
in the heritable form of retinoblastoma, one of these hits comes from the parent gene and the other hit arises sporadically
in the somatic/sporadic form, both hits arise sporadically
the white reflex is an avascular growth at the back of the eyeball
p53
“gaurdian of the genome”
mutations in more than 50% of human cancers
acts through p21 to cause cell cycle arrest
G1/S and G2/M checkpoints
causes apoptosis by inducing transcription of pro-apoptotic genes (such as BAX)
mutations in this gene allow the cell to progress through the checkpoint despite the presence of DNA damage/mutations
APC- adenomatous polyposis coli
familial adenomatous polyposis- colon cancer
BRCA
breast cancer (3%) ovarian cancer
DPC
“deleted in pancreatic cancer”
DCC
“deleted in colon cancer”
Neurofibromatosis type 1
- which chromosome?
- characteristic physical exam finding
- alternative name
cutaneous neurofibromas
chromosome 17
von Recklinghausen
NF2 (neurofibromatosis type 2)
B/L acoustic schwannoma
chromosome 22
WT1 and WT2
Wilms tumor
VHL
von Hippel- Lindau
TSC
tuberous sclerosis
proto-oncogene
normal cellular gene that regulates cell proliferation and differentiation, can become oncogene if mutated
(requires only one mutation)
Onecogene
oncogene
genes that promote autonomous cell growth in cancer cells by promoting cell growth in the absence of normal mitotic signals
oncoproteins produced from these genes are missing important regulatory elements
require mutations in 2 alleles (twomor suppressor)
RAS oncogene
most common oncogene abnormality in human tumors
15-20% of all human tumors contain mutated versions of RAS proteins
K-RAS
colon, lung, pancreatic tumors (Kolon, panKreatic)
H-RAS
bladder and kidney tumors (Hematuria)