WorksheetsGenetics Lecture 2: Colorectal Cancer
Total questions: 32
Worksheet time: 18mins
Majority of colon cancers are
sporadic
familial
benign adenomatous growths protruding from the mucous membrane of the colon and rectum
polyps
tumors
lesions
Which of the following are true?
The US Preventive Services Task Force (USPSTF) recommends that adults 45-75 be screened for colorectal cancer
The decision to be screened after the age of 75 should be made on an individual basis
The US Preventive Services Task Force (USPSTF) recommends that adults 30-60 be screened for colorectal cancer
The decision to be screened after the age of 60 should be made on an individual basis
-Gene termed APC
-Adenomas start as polyps, many form
-Can progress to malignancy
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
-Disease termed _____ or Lynch Syndrome
-Many fewer polyps
-Other tumors also common
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
autosomal dominant
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
APC
oncogene
tumor suppressor gene
Also known as Lynch Syndrome
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
develop only a few adenomas, usually affecting the right side of the colon
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
Amsterdam criteria II is used for diagnosis
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
Defect in one of several genes → MLH1, MSH2, MSH6, and PMS2 (All are involved in DNA mismatch repair )
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
Attenuated FAP
Variant form
Fewer polyps (< 100; 30 = avg)
Later onset
Same lifetime risk of colon cancer (100%)
APC tumor suppressor gene mutations
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
FAP: Location of the mutation on chromosome ___ affects the number of polyps formed and the type of extracolonic features seen
2
3
4
5
6
FAP caused by _____ mutation is inherited in an autosomal recessive fashion
MYH
MLH
MSH
PMS
Of patients with classic FAP, approximately _______ and ________
90% have a mutation in the APC gene
8% in the MYH gene
15% have a mutation in APC
25% have a mutation in MYH
Of patients with attenuated FAP, _______ and ________
90% have a mutation in the APC gene
8% in the MYH gene
15% have a mutation in APC
25% have a mutation in MYH
Mutations can show dominant inheritance but recessive function on a cellular level
True
False
Inherit a predisposition, not a disease
True
False
The same gene can not show mutations in multiple forms of cancer
True
False - same gene can show...
More than one defect is not necessary
True
False - is necessary
Genes mutated in cancer can be categorized
Tumor suppressor
oncogene
DNA repair
missense
Deregulation of normal functions is key to cancer progression
True
False
If genetic testing documents an HNPCC gene mutation, affected relatives should be screened with colonoscopy every 1 to 2 years beginning at age ___
25
30
35
40
________ should be considered for patients meeting any of the revised Bethesda criteria
genetic screening
genetic testing
colonoscopy
complete proctocolectomy
colectomy
Upon diagnosis of FAP, ______ or ______ is recommended before age of 20
genetic screening
genetic testing
colonoscopy
complete proctocolectomy
colectomy
If attenuated FAP is suspected, it is important that family members be screened with ________ rather than _________.
colonoscopy; flexible sigmoidoscopy
flexible sigmoidoscopy; colonoscopy
Genetic counseling and testing should be offered to
patients with diagnosis of FAP
at-risk relatives of patients with FAP
Individuals with 20 or more adenomas
Individuals with 30 or more adenomas
Individuals with 40 or more adenomas
should be considered in patients with negative APC results, and suspected attenuated FAP
MYH testing
MLH testing
MSH testing
PMS testing
Children of patients with FAP should undergo genetic screening at age ____
10
15
20
25
30
Annual Colonoscopy (in those where genetic testing can’t be done or is uninformative) beginning at age ___
10
12
15
20
25
Occurs at a younger age than sporadic colorectal cancer
Familial Adenomatous Polyposis Coli (FAP)
Hereditary Non-Polyposis Colon Cancer (HNPCC)
