Colorectal Cancer (Ch. 8) Flashcards
What are adenomas polyps?
gland-like growths that develop on the mucous membrane that lines the large intestine
Differentiate between sporadic versus hereditary colorectal cancer.
Sporadic = most common
Hereditary = familial pattern = 2 types (familial adenomatous polyposis & hereditary nonpolyposis colorectal cancer)
What are the 2 genes associated with Familial Adenomatous Polyposis? What are the respective inheritance patterns?
APC = autosomal dominant
MYH = autosomal recessive
p53
What chromosome are colorectal cancer genes found on?
chromosome 5
What are the genes associated with Hereditary Nonpolyposis Colorectal Cancer? What are the respective inheritance patterns?
MHL1
MSH2
MSH6
p53
autosomal dominant
What is the clinical presentation for FAP?
- multiple colorectal polyps
- extra/missing teeth
- rectal bleeding
- weight loss
- osteomas
- change in BM
- diarrhea
- bloating
What is the clinical presentation for HNPCC?
- No polyps
Which genes are mismatch repair genes?
MLH1, MSH2, MSH6, PMS2
What is HNPCC also called?
Lynch Syndrome
What are the 3 diagnostic tools used to diagnose colorectal cancer?
- colonoscopy (large bowel) - sigmoidoscopy (only shows bottom part of colon)
- FIT stool sample
What 2 criteria are used to diagnose HNPCC?
Bethesda and Amsterdam
What is Gardner syndrome a phenotypic variant of?
familial adenomatous polyposis
What are the clinical presentations of Gardner syndrome?
- bumps/lumps on bones of extremities and head
- cysts of skin
- spots on inner lining of eyes
- teeth doesn’t properly erupt
