Colon Cancer Genetics

Question 1

2 hereditary colon cancer syndromes

Answer 1

FAP

HNPCC/Lynch

Question 2

APC mutations

Answer 2

primary pathology in FAP

also in other colorectal tumors

Question 3

Mismatch repair defects

Answer 3

HNPCC primary pathology

also in other colorectal tumors

Question 4

New stool test for screening for colon cancer

Answer 4

stool DNA-PCR
APC, p53, RAS, BAT-26, mVIMENTIN
>90% sensitivity and specificity

Question 5

Occult blood screening effectiveness

Answer 5

15% reduction in mortality

Question 6

APC defect pathway

Answer 6

defect in APC
increased WNT/beta-catenin pathway
increased RAS activity
chromosomal instability
left sided

Question 7

MMR/MIN defect pathway

Answer 7

loss of mismatch repair in MLH1 or MSH2
microsatellite instability
right side

Question 8

APC defect in FAP sidedness

Answer 8

left

Question 9

Mismatch repair in HNPCC sidedness

Answer 9

right

Question 10

Gatekeeper gene

Answer 10

APC

Question 11

Clinically relevant mutation in colon cancer

Answer 11

KRAS

Question 12

APC defect causes what kind of instability

Answer 12

chromosomal instability

Question 13

MMR/MIN defect causes what kind of instability

Answer 13

microsatellite instability
makes sense! mismatch repair
defective –> SNPs

Question 14

KCNQ-1

Answer 14

gene Cormier studies

expression = better outcomes