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Question 1

Which of the following accurately summarizes Knudson’s 2-hit hypothesis?

A person with an inherited mutation in a tumor suppressor starts life one genetic “step” closer to developing cancer

A mutation and a carcinogen are needed to cause cancer

A tumor suppressor and an oncogene must be mutated to cause cancer

Many oncogenes require two mutations to drive cellular growth and cause cancer

Question 2

Which of the following tests would be an example of a primarily pharmacogenomic approach to cancer?

TP53 sequencing in someone with a family history of cancer

Full sequencing of the genome of a cancer in a research lab

Gene expression analysis such as OncotypeDX or MammaPrint

HER2 testing in breast cancer

Question 3

Currently, what is the clinical value of identifying somatic mutations in cancer?

There is no value because these mutations cannot be inherited

Identifying the genes that are mutated in an individual cancer can suggest which targeted therapies might be more or less effective

Identifying somatic mutations in a cancer replaces the need for pathological analysis of the tumor

Cancers with greater numbers of somatic mutations are always more aggressive, making it important to identify the mutations

Question 4

Mutations in a given tumor suppressor or oncogene always result in the same type (i.e. prostate, colon, etc.) of cancer.

True

False

Question 5

A young woman develops breast cancer and is found to carry a mutation in BRCA1. Her geneticist explains that hers is known to be a common mutation. The woman is surprised because her parents and grandparents are healthy, and no one in her family has ever had breast cancer before. Which of the following is the LEAST likely explanation for this lack of a family history?

The mutation is actually de novo (i.e. new in her germline and not inherited)

Other women in her family also had the same BRCA1 mutation, but did not develop breast cancer because of reduced penetrance

Others in her family did develop breast cancer, but she is unaware

The mutation was inherited from her father, who inherited it from his father, and she is the first woman to inherit the BRCA1 mutation in several generations

Question 6

Which of the following accurately describes the role of epigenetics in cancer?

Cancer tissue can have changes in methylation compared to normal tissue that can be an early event in the development of a tumor.

The enzymes that control methylation are often mutated in cancer tissue, but have no effect on methylation of the tumor DNA.

Changes in methylation of DNA are an indication that a cell is cancerous, but do not cause any direct effects on gene expression or cell growth.

While cancers can have changes in DNA methylation, the enzymes that control this methylation are not mutated in cancers.

Question 7

What is a role of proto-oncogenes in a normal cell?

To receive or transmit signals that tell a cell when to divide

To prevent cancer by inducing apoptosis if growth becomes uncontrolled

Proto-oncogenes are not active in a non-cancerous cell

To await a somatic mutation in order to cause cancer

Question 8

A 31-year-old woman comes to you and explains that her 33-year-old sister was just diagnosed with “triple-negative” breast cancer. She is concerned that there may be a hereditary cancer syndrome in her family, and requests genetic testing. What would be the most appropriate response?

Inquire if the sister who has breast cancer has undergone genetic testing, and if not, strongly encourage the affected sister to be tested first before ordering a genetic test for your patient

Immediately order a genetic test for BRCA1 and BRCA2 genes

Decline to order genetic testing

Recommend that your 31-year-old patient return for evaluation when she is 33

Immediately order a genetic test for BRCA1, BRCA2, TP53, and PTEN

Question 9

You decide to order genetic testing on your patient, consisting of full sequence analysis of the BRCA1 and BRCA2 genes. The result is normal. What would be appropriate counseling for your patient?

“The normal results of this test are surprising because a mutation should have been detected since you have a family history of breast cancer.”

“We did not find a mutation in BRCA1 or BRCA2, and therefore we should proceed to test other genes such as PTEN and TP53.”

“Your test was normal, which makes it somewhat less likely that you will have breast cancer due to an inherited BRCA1 or BRCA2 mutation, but it is difficult to interpret this test in light of your sister’s cancer because we don’t know if your sister has a mutation in one of these genes.”

"Your test showed that you do not have any mutations in BRCA1 or BRCA2, and therefore you do not have an increased risk of breast cancer compared to individuals without a first-degree relative with breast cancer.”

Question 10

Your patient returns to you and informs you that her sister with cancer has now undergone genetic testing, which showed a deletion of several exons in one copy of BRCA1. What is the appropriate next step?

Request that the 33-year-old sister be tested for PTEN and TP53 as well

Reassure your patient that her test was normal and she is not at increased risk of breast cancer

Inform your patient that now that a mutation has been found in her first-degree relative, she is at increased risk for breast cancer

Review the genetic test ordered on your patient to be sure it included deletion/duplication analysis

Question 11

The following question is an opinion question to help encourage discussion on genetic testing and will not affect your grade.

As you have learned in this course, genetic testing from fetuses to newborns to adults is moving at a rapid pace with tremendous possibilities to affect patient care. At the same time, these sophisticated tests are often quite expensive. Regulators, insurers, governments, doctors, and patients are all struggling with issues surrounding how to pay for tests, which tests, and in what circumstances. We would like your opinion.

Now that you have a sense of the genetic tests that are available and what they can and cannot offer, which of the following best represents how you would address the issue of paying for genetic testing? By “genetic test” we mean any test discussed in the course you have just completed except direct-to-consumer tests. We recognize that the list of options below cannot be exhaustive, and we ask that you select the option that is closest to your opinion.

Genomic and Precision Medicine

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by Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine

Genomic and Precision Medicineby Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine
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