Li-Fraumeni Flashcards
The diagnostic criteria for LFS includes: a ____ with a sarcoma diagnosed before age ___, a first degree relative with a typical LFS cancer under age 45, and a first or second degree relative with any cancer before age 60.
proband; 45
How is LFS inherited?
autosomal dominant
Exons 5-9 are called p53 _____.
hot spots
p53 mutations may be _____, loss of function, dominant negative, or gain of function.
deletions
There are ____ known p53 mutations.
250
____ of LFS cases have a mutation in p53.
70%
What does p21 do?
arrests the cell cycle
___ mutations may be deletions, loss of function, dominant negative, or gain of function.
p53
p53 mutations may be deletions, loss of function, ____, or gain of function.
dominant negative
Name 2 tumor suppressors.
p53, Rb
What cancers commonly present in Li-Fraumeni?
sarcomas, pre-menopausal breast cancers, adrenocortical tumors, leukemias, and lymphomas
The diagnostic criteria for LFS includes: a proband with a sarcoma diagnosed before age 45, a first degree relative with a typical LFS cancer under age 45, and a _____ with ____ before age 60.
first or second degree relative; any cancer
Ras and myc are ____.
oncogenes
In LF-like Syndrome, only ____ are associated with a p53 mutation.
40%
Which exons of p53 are hot spots?
exons 5-9
p53 mutations may be deletions, loss of function, dominant negative, or _____.
gain of function
What is Li-Fraumeni syndrome?
a rare inherited cancer susceptibility syndrome
p53 and Rb are ____.
tumor suppressors
p53 can affect which parts of the cell cycle?
S phase, M phase, and apoptosis
p53 mutations may be deletions, ______, dominant negative, or gain of function.
loss of function
70% of LFS cases have a mutation in ____.
p53
What was the first p53 drug?
nutlin-3a
The diagnostic criteria for LFS includes: a proband with a sarcoma diagnosed before age 45, a_____ with a _____ under age 45, and a first or second degree relative with any cancer before age 60.
first degree relative; typical LFS cancer
Name 2 oncogenes.
ras, myc
How does Li-Fraumeni arise?
a genetic mutation in p53
How many base pairs are there in the p53 gene?
2300
If there are no detectable p53 mutations, then sequence ____ or ____.
hChk2, PTEN
