BCB Exam 1 Study guide

What are the for major tumor suppressors

Rb, P53, INK4a/ARF

What are the three ways to make an oncogene

1. Point mutation

2. Gene amplification

3. Chromosome rearrangement

Point mutation way to make an oncogene

point mutation can lead to a hyperactive protein made in normal amounts

Gene amplification way to make an oncogene

gene amplification can lead to a normal protein that’s greatly overproduced

Chromosome rearrangement way to make an oncogene

nearby regulatory DNA sequence causes normal protein to be overproduced OR

fusion to actively transcribed gene greatly overproduces fusion protein OR fusion protein is hyperactive

Classic features of a tumor suppressor

Loss of function mutation
Targeted allelic loss- methylation or deletion

Inherited mutation predisposes to cancer

Somatic mutation observed in spontaneous tumors

Ability to inhibit transformed cells in vitro

Loss of function mutation feature of a tumor suppressor

in a tumor a tumor suppressor must have loss of function

Targeted allelic loss feature of a tumor suppressor

in a tumor, either methylation or deletion should occur to lose an allele

What do the following tumor suppressors target (VHL, BRCA1/2, NF1, PTEN)

• HIF

• DNA repair mechanisms

• Ras

• PI3K

Discovery of Rb using family pedigree trees

used DNA hybridization within families where at least one member was diagnosed with hereditary retinoblastoma and used it to find the missing tumor suppressor

mTOR pathway

mTOR leads to ribosome biogenesis and mRNA translation

What inhibits CDK4/cyclin d

Ink4a (p16)

What inhibits CDK2/cyclin e

p27

Where does neuroblastoma stem from and where does it arise

stems from primitive sympathetic neural precursors and arises half in adrenal medulla and rest in paraspinal sympathetic ganglia in chest + abdomen

Where does neuroblastoma spread to

lymph nodes, bones, and bone marrow

What is pharmacogenomics

study of how genes and variations affect the way individuals bodies respond to drugs

Familial vs hereditary cancers

Familial- high incidence of cancer in a family but no single gene mutation

Hereditary- specific gene mutation inherited leads to a certain cancer

What is the basement membrane

layer of extracellular matrix that supports and anchors epithelial cells while separating them from underlying tissues

What is it called when a cancer cell enters and exists the blood stream

intravasate and extravasate

Five horsemen (hallmarks) of cancer

1. Self-sufficiency in growth signals

2. Insensitivity to anti-growth signals

3. Limitless replicative potential

4. Evading apoptosis

5. Tissue invasion and metastasis

Emerging hallmarks of cancer

1. Avoiding immune destruction

2. Deregulating cellular energetics

Enabling characteristics of cancer

1. Genome instability and mutation

2. Tumor-promoting inflammation

What proteins stabilize the T loop

POT1, TRF1, and TRF2

What is telomerase

enzyme that extends telomeres by adding repeat DNA sequence to chromosome ends