GIM 5 - Familiar Cancer Syndromes

Question 1

what does landscaper do?

Answer 1

control the surrounding stromal enviroment to prevent cancer formation

Question 2

what is an example for gatekeepr genes

Answer 2

TP53

Question 3

In FAP, what type of genes have gone wrong

Answer 3

gatekeeper

Question 4

In HNPCC, what type of genes have gone wrong

Answer 4

caretaker

Question 5

what affects the likelihood of developing cancer?

Answer 5

importance of gene function

Question 6

what does tumour suppressor genes do?

Answer 6

Protects cells from becoming cancerous

loss of function increases risk of cancer

Question 7

examples for tumour suppressor genes

Answer 7

APC, BRCA1/2, TP53

Question 8

what does the oncogenes do

Answer 8

regulate cell growth and differentiation

Question 9

how can tumour form in relation to oncogenes

Answer 9

cause oncogenes to gain function/activate - increase risk of cancer

Question 10

example for oncogenes

Answer 10

growth and signal transduction factors, RET gene

Question 11

what is 2 hit hypothesis

Answer 11

2 hits on both allele in order for cancer to form

recessive at ndromcellular level

only one more hit in familial cancer syndrome as one allele already affected

Question 12

what sort of inheritance pattern does most cancer syndrome show

Answer 12

autosomal dominant

Question 13

what is missense mutation?

Answer 13

single change in base pair leading to change in protein coding ie mistake

Question 14

what is nonsense mutation

Answer 14

replacement of a single nucleotides leading to coding for a stop codon

Question 15

what is frameshift mutation

Answer 15

whole sequence of the aa coded is shifted due to nucleotides changes

Question 16

when is diagnostic testing carried out?

Answer 16

usually performed on DNA from a relative affected with cancer to try to identify the familial mutation

Question 17

when is predictive testing carried out?

Answer 17

If a mutation is identified in the family, predictive testing for the specific mutation may then be offered to other relatives to determine whether or not they are at risk

Question 18

is retinoblastoma inherited?

Answer 18

yes/can be

Question 19

which gene is affected in retinoblastoma?

Answer 19

retinoblastoma gene (Rb1)

Question 20

What does FAP stands for

Answer 20

familiar adenomatous polyposis

Question 21

which cancer is FAP high risk of?

Answer 21

bowel cancer?

Question 22

what is the pattern of inheritance in FAP?

Answer 22

autosomal dominant

Question 23

which gene is faulty in FAP?

Answer 23

APC tumour suppressor genes

Question 24

what does HNPCC stands for?

Answer 24

hereditary non-polyposis colorectal cancer

Question 25

what sort of genes are faulty in HNPCC

Answer 25

caretaker

Question 26

what sort of inheritance is HNPCC

Answer 26

autosomal dominant

Question 27

diagnostic criteria for HNPCC?

Answer 27

One member diagnosed with colorectal cancer before age 50 years

Two affected generations

Three affected relatives, one of them a first-degree relative of the other two

FAP should be excluded

Tumours should be verified by pathologic examination

Question 28

what does BRAC1/2 do?

Answer 28

DNA repair - caretaker

Question 29

what are the pattern of inheritance for BRCA1/2

Answer 29

autosomal dominant

Question 30

which gene is faulty for Li Fraumeni syndrome

Answer 30

P53 - gatekeeper

Question 31

what sort of inheritance pattern is Li Fraumeni syndrome

Answer 31

autosomal dominant