Li-Fraumeni

Question 1

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.

Answer 1

proband; 45

Question 2

How is LFS inherited?

Answer 2

autosomal dominant

Question 2

Exons 5-9 are called p53 _____.

Answer 2

hot spots

Question 2

p53 mutations may be _____, loss of function, dominant negative, or gain of function.

Answer 2

deletions

Question 3

There are ____ known p53 mutations.

Answer 3

250

Question 4

____ of LFS cases have a mutation in p53.

Answer 4

70%

Question 5

What does p21 do?

Answer 5

arrests the cell cycle

Question 6

___ mutations may be deletions, loss of function, dominant negative, or gain of function.

Answer 6

p53

Question 7

p53 mutations may be deletions, loss of function, ____, or gain of function.

Answer 7

dominant negative

Question 8

Name 2 tumor suppressors.

Answer 8

p53, Rb

Question 10

What cancers commonly present in Li-Fraumeni?

Answer 10

sarcomas, pre-menopausal breast cancers, adrenocortical tumors, leukemias, and lymphomas

Question 11

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.

Answer 11

first or second degree relative; any cancer

Question 11

Ras and myc are ____.

Answer 11

oncogenes

Question 12

In LF-like Syndrome, only ____ are associated with a p53 mutation.

Answer 12

40%

Question 13

Which exons of p53 are hot spots?

Answer 13

exons 5-9

Question 14

p53 mutations may be deletions, loss of function, dominant negative, or _____.

Answer 14

gain of function

Question 16

What is Li-Fraumeni syndrome?

Answer 16

a rare inherited cancer susceptibility syndrome

Question 17

p53 and Rb are ____.

Answer 17

tumor suppressors

Question 18

p53 can affect which parts of the cell cycle?

Answer 18

S phase, M phase, and apoptosis

Question 19

p53 mutations may be deletions, ______, dominant negative, or gain of function.

Answer 19

loss of function

Question 21

70% of LFS cases have a mutation in ____.

Answer 21

p53

Question 22

What was the first p53 drug?

Answer 22

nutlin-3a

Question 23

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.

Answer 23

first degree relative; typical LFS cancer

Question 24

Name 2 oncogenes.

Answer 24

ras, myc

Question 25

How does Li-Fraumeni arise?

Answer 25

a genetic mutation in p53

Question 26

How many base pairs are there in the p53 gene?

Answer 26

2300

Question 27

If there are no detectable p53 mutations, then sequence ____ or ____.

Answer 27

hChk2, PTEN