2J- Cancer Genetics Flashcards Preview

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Flashcards in 2J- Cancer Genetics Deck (31)
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1

What do tumor supressor genes normally block?

uncontrolled cell proliferation by participating in the cell cycle regulation pathways.

2

What happens when the pRb molecule is phosphorylated?

It is inactive and allows the cell to proceed into the S phase.

3

What molecules encodes pRb?

RB1

4

What would happen if there is a loss-of-fxn mutation, deletion or hypermethylation in RB1?

pRb is not made there is uncontrolled cell division

5

What would happen if there are mutations in the CDK inhbitors?

uncontrolled cell growth

6

What are oncogenes?

They are genes that cause excessive cell proliferation

7

What genes typically make oncogenes?

proto-oncogenes (i.e. genes involved in regulation of normal cell growth)

8

What are some examples of proto-oncogenes?

GFs, GF receptors, signal transduction molecules and nuclear transcription factors

9

Are tumor supressor genes caused by gain or loss-of-fxn?

Loss of fxn

10

What types of mutations at the cell level causes problems in tumor supressor genes?

recessive

11

Are oncogenes caused by gain or loss-of-fxn?

gain of fxn

12

What types of mutations at the cell level causes problems in ocogenes?

Dominant

13

Some boob cancers are the result of defective repair of what type of DNA damage?

double stranded breaks

14

Some butt cancers are the result of defective repair of what type of DNA damage?

DNA mismatch repair

15

Xeroderm pigmentosum is the result of defective repair of what type of DNA damage?

nucleotide excision repair

16

What is the fxn of APC?

tumor suppressor gene, also participates in the phosphorylation and degradation of β-catenin

17

What disease is caused by dysfxnl APC?

Familial adenomatous polyposis (FAP)

18

What is the fxn of p53?

acts as a transcription factor that regulates genes that affect cell growth, prolif, and survival, induces apoptosis if DNA is damaged

19

What makes p53?

TP53. If it is mutated, p53 isnt made.

20

What disease is caused by dysfxnl p53?

Li-Fraumeni syndrome

21

What is the fxn of BRCA1?

participates in the DNA repair process, especially in double stranded breaks.

22

What disease is caused by dysfxnl BRCA1?

Familial breast and ovarian cancer

23

What is the fxn of NF1?

It's product, neurofibromin, plays a role in signal transduction by down-regulation of RAS

24

What disease is caused by dysfxnl NF1?

Neurofibromatosis type 1

25

A cell can initiate a tumor ONLY when it contains how many damaged alleles?

2

26

What is the Multi hit concept of carcinogenesis?

more than one mutation is required for development of a tumor cell

27

What is Familial Adenomatous Polyposis (FAP) ?

There are a large # of polyps, so there is a high probability that at least one will produce a cancerous tumor by age 45

28

What causes Hereditary nonpolyposis colon cancer (HNCC)?

mutations occur in DNA mismatch repair genes

29

What enzyme is present in 85-90% of tumors that replases temomeric segments?

telomerase

30

What can gene mapping identify?

the region an inherited cancer gene is located but can’t identify the disease gene!