Genetics Exam 2 - Dysmorphology, Cancer Genetics, and Multifactorial Inheritance

Hit the Brakes!

100

Define the term: Oncogene

A mutated gene that causes/contributes to cancer. A mutated proto-oncogene = oncogene. 

200

What are p16 and p21 examples of, and what are their roles in the cell division cycle? 

They are examples of tumor suppressors, which slow/stop the cycle.

300

Name one protein that cancer cells tend to have high levels of. Which normal function of the cell does this protein interfere with?

Survivin inhibits apoptosis.

400

What are the two pathways of action for p53? 

1. Arrests the cell cycle by preventing Cdk cyclin phosphorylation of Rb protein

2. Promotes apoptosis by preventing BCL-2 from blocking apoptosis 

500

A loss of function mutation in RET results in which condition? 

Hirschsprung's Disease

Terms and Conditions

100

Compare the terms "malformation" and "deformation".

Malformation = intrinsic

Deformation = extrinsic

200

Compare the terms "syndrome" and "association".

Syndrome = one thing leads to many other things

Association = a bunch of things happen, but we are unsure of what exactly links/causes them

300

Compare the terms "mutagen" and "carcinogen"

Mutagen = factor that brings about a mutation

Carcinogen = agent that causes cancer

400

APC, RB, and p53 are all examples of which type of Tumor Suppressor Gene? 

A. Gatekeepers

B. Caretakers

A. Gatekeepers 

Note: BRCA1 and BRCA2 are examples of Caretaker Tumor Suppressor Genes

500

What are the 5 broad classifications of cancer?

Carcinoma

Lymphoma

Leukemia

Sarcoma

Glioma

Curvalicious

100

Describe a Gaussian distribution, as it relates to multifactorial inheritance.

Normal Distribution/Bell curve 

200

True or False: it takes more factors to cause a multifactorial condition in men than in women. 

False. It takes more factors to cause a condition in women. (Liability curves)

300

In a family with 3 children, 2 of the children are born with a VSD. If the family has another child, will that child's risk of having a VSD be: 

A. Greater

B. Less

C. No more or less/ comparable to the general population.

A. Greater. Recurrence risk rises with the number of family members affected. 

400

If the concordance coefficient for affinity towards salty foods between twins approaches zero, what does that tell us about the concordance rate? 

The concordance rate is no greater than chance.

500

Based on the following table, which trait is most likely to be determined by genetic factors. 

Psoriasis.

Guess who

100

Which types of HPV is mostly commonly associated with cervical and oral cancers? 

HPV16 and HPV18

200

Familial melanoma is linked to mutations in which gene, which normally produces p16?

CDKN2A

300

Li Fraumeni syndrome is caused by an inherited mutation in which gene?

p53

400

Which GTP pathway is the most commonly mutated pathway in cancer?

RAS

500

Name the chromosomal syndrome associated with the following traits: cardiac abnormalities, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. 

CATCH22 (chromosome 22 syndrome)

Name that Pokemon! But instead of a Pokemon, it's a condition.

100

This adorable baby has which chromosomal condition? 

Down Syndrome

200

If the following patient was also found to have Lisch nodules in their eyes, we would be concerned for the presence of which condition? 

Neurofibromatosis I

300

This cutie likely has which sequential condition? 

Pierre-Robin Sequence

400

While you are rounding on the newborn wing, you come across a newborn, who has rocker bottom feet, and whose fingers look like the image below. What category of chromosomal abnormality is in your differential dx for this patient? 

Trisomies

500

This young patient has inherited an autosomal dominant condition, and has aortic insufficiency, in addition to what you can observe here. What condition does this patient have? 

Marfan Syndrome.