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*Cancer Genetics in Clinic - Coggle Diagram
*Cancer Genetics in Clinic
Pathologies
FAP
APC Protein
APC mutation activates WNT signaling that increases proliferation and inhibits apoptosis
APC mutation increases the beta-catening which drives gene expression to increase proliferation and inhibition of apoptosis
Autosomal dominant
Thousands of colon adenomas appear during childhood
Treatment is a colectomy by age 20
100% guaruntee of CRC by age 40, generally found by age 20
Born loss of APC protein
Cause of death isn't colon cancer anymore because the colons are removed, but there are other cancers that develop in the upper GI tract that end up being the cause of death in these patients
Lynch Syndrome (HNPCC)
Polyps progress to cancer in 2-3 years (faster than normal)
Autosomal dominant
Caused by damaged mismatch repair genes. This stops mismatch DNA correction, which causes errors across the genome (generally frameshift mutations)
Multiplicity of cancers is a hallmark of Lynch syndrome
Lesions are generally flat and harder to identify than other colon issues
No APC loss here
Is a family of cancer diseases, not just CRC, which is why it isn't called HNPCC anymore
Gotta figure out if someone is gonna have this cancr before they get it (3-2-1 rule)
3 family members w/ lynch synd cancers
2 first degree relatives w/ these cancers
1 CRC relative before the age of 50
Send to a genetic counselor!!! Don't try to do this by yourself!
3-4% of all CRC, way more common than FAP - CRC patients need checked!!
Cancer screening vs. diagnostic tests
Screenings are performed before a person has symptoms based on risk
To detect or treat more effectively w/out symptoms
Screening works for preveintion (polyp removal) and early detection
Diagnostic tests are done because of a symptom that is already recognized
Age is a major risk factor; 90% of usual cases are after age 50, so screenings after that age are basically just public health standard of care
Usually takes 10-15 years for colorectal cancer to develop from a polyp