Genetics of Cancer Flashcards
What are the core properties of Cancer Cells?
- Uncontrolled Proliferation
- Immortalization
- Protection from Antiproliferative signaling
- Protection from apoptosis
- Angiogenesis
- Invasion and metastasis
Proto-oncogene conversion by deletion or point mutation results in?
Hyperactivity
Proto-oncogene conversion by Gene Amplification results in?
Overexpression
Proto-oncogene conversion by Chromosomal rearrangement that produces novel promoter?
Overexpression
Proto-oncogene conversion by Chromosomal rearrangement that produces a new coding region?
Novel Product
Tumor Suppressor RB1 is responsible for what?
Cell Cycle control
Tumor Suppressor RB1 mutation can result in what familial disorder?
Retinoblastoma
Tumor Suppressor RB1 mutation can result in what sporadic (somatic) disorder?
Small cell lung carcinoma
Tumor Suppressor TP53 is responsible for what?
p53
Cell cycle control
Tumor Suppressor TP53 mutation can result in what familial disorder?
Li-Fraumeni Syndrome
Tumor Suppressor TP53 mutation can result in what Sporadic (Somatic) disorder?
Lung and breast cancer
Tumor Suppressor BRCA1 is responsible for what?
DS Break Repair
Tumor Suppressor BRCA1 mutation can result in what familial disorder?
Familial Breast Cancer
Tumor Suppressor BRCA1 mutation can result in what Sporadic (Somatic) disorder?
Tumor Suppressor NF1 is responsible for what?
GTPase Activator
Tumor Suppressor NF1 mutation can result in what familial disorder?
Neurofibro-matosis
How is Retinoblastoma treated?
Radioiodine or cryotherapy to remove tumor if diagnosed at an early stage and continued surveillance.
What is the most common ocular malignancy?
Retinoblastoma
Describe Knudson’s Hypothesis
- In familial form, only one mutation event is needed to make a cell w/o Rb product.
- Thus tumors occor more frequently
-
Sporadic form, two mutations (one in each allele) and in the same cell are needed to knock out Rb.
- Much rarer.