Cancer and genomic medicine Flashcards
The abnormal division and reproduction of cells that can spread throughout the body
Cancer
Genetic factors + environmental factors are called:
Carcinogenes
Epithelial cells, solid tumors
carcinomas
muscular or connective tissue
sarcoma
leukemias, lymphomas and myelomas affects the:
Blood cells
Neuroblastomas and gliomas affects the
nerve cells
Carcinogenesis
-Genetic material (mutations)
-Division at higher rate
-Clonal division
-New mutations
-Tumor immunovigilance
-Neoplasia
Driver mutations are linked to:
Development/Progression of cancer
Driver mutations are found at higher frequencies in:
In the same type or even across different types of cancer
Example of a driver mutation:
TP53 gene encoding for the p53 protein
Passenger mutations
Inferred to develop as the neoplasia progresses
______ accounts for the majority of mutations in cancer
Passenger mutations
Most types of cancer are _____ and are caused by ______.
sporadic and caused by somatic mutations
Only ____ of cancer cases result from a germline mutation.
about of 10%
_____ is caused by environmental exposure to unknown factors
sporadic cancer
No pattern of inheritance, higher frequency than expected
Familiar cancer
A pattern of inheritance is observable, younger individuals affected
Inherited Cancer
Which genes are related with the development of cancer?: (inherited or acquired de novo)
- Proto-oncogenes
- Tumor supressor genes
- DNA repair genes
- Caretakers
- Gatekeepers
- Landscapers
Proto-oncogenes promote___ and ___
growth and cell division
Proto-oncogenes are:
cell division and cell cycle regulators
When the activity and growth is not controlled the photo-oncogenes are considered as:
Oncogenes
Oncogenes examples:
- K-ras
- Cyclins
- CDK
- c-myc
- c-erbB
Tumor supressor genes role
Are considered as protective genes, because limit the cell growth
Slow down the cell division or tell cells when die
examples of Tumor suppressor genes
-BRCA1
-BRCA2
-P53
DNA repair genes
correct the mistakes occurred during the replication
DNA repair genes are more sensitive to
more sensitive to agents that damage DNA
The caretakers keeping_____ healthy.
keeping other genes healthy
Gatekeepers _____ or _____ cell growth.
controlling or inhibiting
Landscapers
fostering a stromal environment conductive to unregulated cell proliferation
RB is also known as the____
Governor of the cell cycle
RB is a key negative regulator of the ____ cell cycle transition.
G1/S regulator
RB is directly or indirectly inactivated in most_______.
human cancers
RB diagram
TP53 is also known as the
Guardian of the genome.
TP53 regulates:
-cell cycle progression
-DNA repair
-Cellular senescence
-Apoptosis
_____ is the most frequently mutated gene in human cancers.
TP53
W/ loss of ____ function, DNA damage goes unrepaired, driver mutations accumulate in oncogenes and other cancer genes.
p53
TP53 diagram
Chromosomal changes
-Translocations
-Deletions
-Gene amplification
Translocations are the activation of_____ (by promoter or enhancer substitution, by formation of a fusion gene.
Translocations are the location of proto-oncogenes.
Not all deletions lead to______
Loss of gene function, a few activate oncogenes.
Gene amplification: Reduplication and amplification of their DNA sequences. (multiple small extrachromosomal structures called double minutes and homogeneous regions.
Gene amplification
Epimutations are
A change in the chemical structure of DNA that does not change the DNA coding sequence. Epimutations occur in the body when chemical groups called methyl groups are added to or removed from DNA or when changes are made to proteins called histones that bind to the DNA in chromosomes