Practice Questions Flashcards
Review the pedigree above. Based on this information, select the features of inherited cancer syndromes that are exhibited in this family. Select all that apply.
Question 2 options:
Several relatives with the same or related cancers
Younger age of onset than is typical
Autosomal dominant pattern of inheritance
Presence of rare cancers
Excess of multifocal or bilateral cancers
Excess of multiple primary cancers
Presence of other nonmalignant features
Everything except multifocal/bilateral and presence of non-malignant features
Select the response below that correctly fills in the blank on the following sentence: In cancer development, the function of ___________ is deactivated by biallelic ___________ mutations.
Question 3 options:
oncogenes / passenger mutations
tumor suppressor genes / passenger mutations
oncogenes / driver mutations
tumor suppressor genes / driver mutations
Tumor suppressor genes/driver mutations
Does the proband above (indicated by the arrow) meet NCCN criteria for genetic testing?
Question 4 options:
Yes
No
Yes
A 35-year-old unaffected female undergoes genetic testing for BRCA1 and BRCA2 due to a very strong family history of breast and pancreatic cancer. Her test result is negative for these two genes. Below, identify all of the points that it would be important for this patient to understand about the way these genetic test results impact the risk of cancer in her and her family.
Question 5 options:
She is not at risk for developing breast or pancreatic cancer.
Her risk for developing breast cancer sometime in her life is approximately 12.5%.
Because this result is negative, it shows that there is no disease-causing variant segregating in this family.
There may be a variant in a gene other than BRCA1/2 that is increasing the risk of cancer in this family.
None of the above.
There may be a variant in another gene besides BRCA1/2
Guess that gene! In the pedigree above, which gene is most likely to lead to the presentation of cancers in this family?
ATM
CDH1
PTEN
TP53
PTEN
Does the proband (indicated by the arrow) in the pedigree above meet criteria for CHD1 testing?
Yes
No
No
Does the proband (indicated with the arrow) in the pedigree above meet NCCN criteria for Lynch syndrome testing?
Yes
No
Yes
let’s evaluate the results and implications of genetic testing. A panel test of the five Lynch Syndrome genes was ordered for the proband. The test returned a variant of uncertain significance in MSH6. What would be the most appropriate screening protocol for the proband considering the test result and family history?
Average risk screening
Tailored surveillance based on family history
High risk screening for individuals with Lynch syndrome
Tailored surveillance based on fam hx
Which of the following genes is most likely segregating in the family above?
CDKN1C
SDHD
VHL
WT1
VHL
In the family show in the pedigree above, which individual would be most appropriate for germline genetic testing?
III-2
IV-1
III-4
II-2
III-4
