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)
N-RAS
melanomas, hematologic malignancies, follicular thyroid cancer
RET
neurotrophic growth factor receptor, constitutively active when mutated (TKR)
associated with MEN2A, 2B (adrenal glands and thyroid)
- pheochromocytoma
- medullary thyroid cancer
also associated with papillary carcinoma of the thyroid
HER2/neu (c-erbB2)
breast cancer
ovarian cancer
gastric cancer
C-myc
Burkitt lymphoma
L-myc
Lung tumors
N-myc
neuroblastoma
most common cancers in men
- prostate
- lung
- colon
most common cancer deaths in men
- lung
- prostate
- colon
- pancreatic
most common cancer incidence in females
- breast
- lung
- uterine
- colon
most common cancer deaths in females
- lung
- breast
- colon
- pancreas
primary prevention- cancer
smoking obesity poor diet inactivity sun exposure
lung cancer screening
annual chest CT in adults 55-80 who have a 30-pack year history of smoking
don’t screen if the patient quite more than 15 years ago
breast cancer screening
mammogram every 2 years from 50-75
cervical cancer screening
Pap smear every 3 years from 21-65
prostate cancer screening
PSA or DRE optional
colon cancer screening
colonoscopy starting at 50yo, every 10 years until 75yo
flex sig every 5 years
FOBT every year
lung cancer
annual CT CT if quit within 15 yrs and at least 30 pack year smoking history, from ages 55-80
PSA
prostate cancer, BPH, trauma
CA125
ovarian cancer
peritoneal irritation
Alkaline phosphatase
bone mets
biliary disease
paget disease of bone
AFP
hepatocellular carcinoma
CA19-9
pancreatic cancer
CEA
colon cancer
pancreatic cancer
S-100
melanoma, schwannoma
Tartrate- resistant acid phosphatase (TRAP)
hairy cell leukemia, a type of CLL
pancreatic cancer tumor marker
CA19-9, CEA
