Colon Cancer Genetics Flashcards Preview

GI--Wk 5 > Colon Cancer Genetics > Flashcards

Flashcards in Colon Cancer Genetics Deck (14)
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1
Q

2 hereditary colon cancer syndromes

A

FAP

HNPCC/Lynch

2
Q

APC mutations

A

primary pathology in FAP

also in other colorectal tumors

3
Q

Mismatch repair defects

A

HNPCC primary pathology

also in other colorectal tumors

4
Q

New stool test for screening for colon cancer

A

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

5
Q

Occult blood screening effectiveness

A

15% reduction in mortality

6
Q

APC defect pathway

A
defect in APC
increased WNT/beta-catenin pathway
increased RAS activity
chromosomal instability
left sided
7
Q

MMR/MIN defect pathway

A

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

8
Q

APC defect in FAP sidedness

A

left

9
Q

Mismatch repair in HNPCC sidedness

A

right

10
Q

Gatekeeper gene

A

APC

11
Q

Clinically relevant mutation in colon cancer

A

KRAS

12
Q

APC defect causes what kind of instability

A

chromosomal instability

13
Q

MMR/MIN defect causes what kind of instability

A

microsatellite instability
makes sense! mismatch repair
defective –> SNPs

14
Q

KCNQ-1

A

gene Cormier studies

expression = better outcomes