Lecture 3: Epidemiological Studies

Question 1

What type of study correlates genetic mutaions with observed phenotype (penetrance)?

Answer 1

GWAS (Genome Wide Correlation Studies)

Question 2

This type of study ffollows a group of people who do not initially have the disease over time and measures the rate of disease that ensues. Usually divided into two groups, one of which is subjected to a specific exposure or intervention.

Answer 2

Cohort study

Question 3

What two groups is a cohort group usually divided into?

Answer 3

Usually divided into two groups, one of which is subjected to a specific exposure or intervention.

Question 4

Study in which one group with the disease (case) is compared with one group without (control) for a given exposure.

Answer 4

Case-control study

Question 5

What is indicative of a protective effect in a case-control study?

Answer 5

And odds ratio or less than 1.

Question 6

What is a type of case-control study in which the particular exposure variable is a particular allele of a candidate susceptibility gene?

Answer 6

Association study

Question 7

Statistical evaluative technique in which the results of several case-control or cohort studies are combined to generate a summary of the odds ratio.

Answer 7

Meta-analysis

Question 8

A study designed to estimate penetrance. Genetic testing is perfomed on the subjects, and the family histories of the mutation carriers are compared with the family histories of the non-carriers.

Answer 8

Kin-cohort study

Question 9

Mapping a family tree and identifying those exhibiting phenotype and those carrying, but not exhibiting.

Answer 9

Pedigree diagram

Question 10

Mutations that occur over and over again in a population.

Answer 10

Hot-spot mutations

Question 11

Something someone does or that happens to make a mutation non-penetrant (e.g., an oophorectomy to prevent ovarian cancer).

Answer 11

Modifiers of risk

Question 12

True or false: High-risk mutations (e.g., p53) are not as common as low-risk mutations.

Answer 12

True

Question 13

Is MIC an oncogene or tumor suppressor?

Answer 13

Oncogene

Question 14

With a neuroblastoma, what happens if you have MIC amplification?

Answer 14

Death (almost always)

Question 15

In a neuroblastoma, what happens if you have non-amplification of MIC?

Answer 15

Almost always survive

Question 16

Why are there a range of responses to cancer treatments?

Answer 16

1) One’s genetic make-up determines how one responds to a cancer drug.
2) The DNA of the patient and the DNA of the tumor can affect how the tumor grows and responds to treatment.

Question 17

What must you monitor a patient’s blood for when the patient is taking chemotherapy?

Answer 17

Drops in WBC count (T and B cells)

Question 18

To be penetrant, a mutation must affect one of what four things?

Answer 18

1) RNA stability (so DNA can’t become protein)
2) Disrupt critical binding region of a protein (so protein can’t perform normal function)
3) Make shorter proteins (affect function of protein)
4) Point mutation (affects function of protein)