Cancer Genetics Flashcards
1
Q
classes of genetic damage in cancer
A
- proto-onco genes
- tumor suppressor genes
- apoptosis
- DNA repair
2
Q
driver mutation
A
- cause of malignant phenotype
- genes that are in congrol
3
Q
initiating mutation
A
the first driver mutation/ first cell that is mutated
4
Q
passenger mutation
A
- no phenotypic consequences
- genes don’t do that much/ not in control
5
Q
major phases of cancer evolution
A
- breakthrough phase
- expansion phase
- invasive phase
6
Q
what is the breakthrough phase?
A
- one bad cell/ driver cell causes mutation
- divides abnormally
7
Q
what is the expansion phase?
A
- still benign
- proliferation of cells locally
8
Q
what is the invasive phase?
A
- more driver gene mutations
- tumor invades distant organs
9
Q
oncogene
A
mutation in a single allele is tumorigenic
10
Q
tumor suppressor gene
A
- mutation required in both alleles
11
Q
first hit germ-line
A
- inheritance of a single germ-line mutation increases a chance of receiving a second somatic hit causing cancer
12
Q
second hit somatic-line
A
- happens in sporadic forms of disease by two sequential somatic mutations
13
Q
retinoblastoma
A
- rare type of eye cancer of early childhood that develops in retina
- caused by RB1
14
Q
sporadic Rb
A
- both alleles of RB1 are mutated
- two hits after birth
15
Q
inherited Rb
A
- first hit mutation is inherited
- second hit is in somatic line after birth
- have multiple tumors and at an earlier age
16
Q
loss of heterozygosity
A
- change from heterozygous state to homozygote state in the tumor DNA
- have mutated allele, normal functioning allele is deleted in second hit
- hallmark for tumor suppressor genes
17
Q
ulcerative colitis
A
- chronic inflammation causing ulcers in the inner lining of large intestine
- chronic inflammation makes colon more susceptible to ROS
- inflammation -> dysplasia -> carcinoma
- associated with p53 gene
18
Q
what is the p53 gene
A
tumor-suppressor gene
