Colorectal Cancer (Ch. 8)

Question 1

What are adenomas polyps?

Answer 1

gland-like growths that develop on the mucous membrane that lines the large intestine

Question 2

Differentiate between sporadic versus hereditary colorectal cancer.

Answer 2

Sporadic = most common

Hereditary = familial pattern = 2 types (familial adenomatous polyposis & hereditary nonpolyposis colorectal cancer)

Question 3

What are the 2 genes associated with Familial Adenomatous Polyposis? What are the respective inheritance patterns?

Answer 3

APC = autosomal dominant

MYH = autosomal recessive

p53

Question 4

What chromosome are colorectal cancer genes found on?

Answer 4

chromosome 5

Question 5

What are the genes associated with Hereditary Nonpolyposis Colorectal Cancer? What are the respective inheritance patterns?

Answer 5

MHL1
MSH2
MSH6
p53

autosomal dominant

Question 6

What is the clinical presentation for FAP?

Answer 6

• multiple colorectal polyps
• extra/missing teeth
• rectal bleeding
• weight loss
• osteomas
• change in BM
• diarrhea
• bloating

Question 7

What is the clinical presentation for HNPCC?

Answer 7

• No polyps

Question 8

Which genes are mismatch repair genes?

Answer 8

MLH1, MSH2, MSH6, PMS2

Question 9

What is HNPCC also called?

Answer 9

Lynch Syndrome

Question 10

What are the 3 diagnostic tools used to diagnose colorectal cancer?

Answer 10

• colonoscopy (large bowel) - sigmoidoscopy (only shows bottom part of colon)
• FIT stool sample

Question 11

What 2 criteria are used to diagnose HNPCC?

Answer 11

Bethesda and Amsterdam

Question 12

What is Gardner syndrome a phenotypic variant of?

Answer 12

familial adenomatous polyposis

Question 13

What are the clinical presentations of Gardner syndrome?

Answer 13

• bumps/lumps on bones of extremities and head
• cysts of skin
• spots on inner lining of eyes
• teeth doesn’t properly erupt