Genetics Final Material Flashcards
Cancer and stuff
Less
Malignant tumors are generally (more/less) differentiated than the tissues from which they develop
Somatic
Carcinogenic mutations from both internal and external sources occur mostly in _______ cells
Driver Mutation
Mutation that directly leads to cancer
Passenger Mutation
Mutation that leads to genomic instability, but does not directly lead to cancer
TERT (Telomerase reverse transcriptase)
Activation of a subunit of telomerase, ____, allows cancer cells to avoid replicative senescence
VEGF (Vascular endothelial growth factor)
Proliferation of ____ signal protein leads to sustained angiogenesis is many cancer cells
Dominant
Oncogenic mutations act in a (dominant/recessive) fashion
EGFR (Endothelial growth factor receptor)
Growth factor oncogene that leads to proliferation
c-SRC
Signal transduction EZ that was the first identified human oncogene.
Ras
GTP binding proto-oncogene whose mutated form is locked into a permanently “on” state
ERBB (HER1-4)
A receptor tyrosine kinase (RTK) superfamily that
consists of the epidermal growth factor (EGF) receptors
and additional three members
T
(T/F) The EGFR oncogene is altered in many epithelial tumors by diverse mechanisms
Tumor suppressor genes
Genes that function to prevent malignant transformation and restrain cell growth
T
Tumor suppressor gene mutations can be somatic or in the germline
Recessive (one is enough to prevent cancer)
Tumor suppressor genes typically act in a (dominant/recessive) fashion
Germinal
In hereditary cancers the first tumor suppressor gene mutation is (somatic/germinal)
Haplosufficient
If a tumor suppressor gene heterozygote doesn’t develop tumors they are considered _______________
Haploinsufficient
If a tumor suppressor gene heterozygote does develop tumors they are considered _________________
p53
Best known tumor suppressor gene transcription factor that is mutated in 50-70% of all cancers
Tissue specific
BRCA1 and rb are ______ ________ mutations of tumor suppressor genes
Gatekeepers
Tumor suppressor genes directly regulating tumor growth by inhibiting their growth or promoting their death (rb, p53)
Caretakers
Tumor suppressor genes that do not directly suppress tumor growth, yet inactivation of these genes leads to genetic instability that indirectly promotes tumor growth (BRCA1, HPNCC)
Caretaker
Mutation of (gatekeeper/caretaker) tumor suppressor genes usually occurs first
G1/S
The wild type genes of Rb and p53
F
(T/F) Most tumors carry only oncogenic or tumor suppressor gene mutations
F (not usually)
(T/F) Oncogenes are sometimes implicated in inherited cancer
T
(T/F) Proto-oncogenes are normal cell genes coding for proteins homologous to the viral ones
Mutator
The _______ phenotype is linked to mutations in
DNA mismatch repair and DNA replication genes
Microsatellite instability
Mutations in MMR machinery parallel tumor suppressor genes and lead to what?
T
(T/F) Translocations can generate new genes or move genes to a different regulatory promoter
A
Many leukemias develop from:
A) Gross chromosomal translocations
B) Oncogene mutations
C) Tumor suppressor gene mutations
C-ABL
_____ is a non-receptor tyrosine kinase that shuttles between the cytoplasm and the nucleus
BCR-ABL
_______ is constitutively active and activates downstream proteins: ras and AKT and prevents apoptosis
Mutator Genes
_____________ are a subtype of tumor suppressor genes
that enhance genomic instability and increase the risk
of cancer
CpG (C -> G)
Dinucleotides that are covalent chemical DNA modifications most commonly methlyated
Epigenetic Trait
A stable, mitotically and meiotically heritable phenotype that results from changes in gene expression
Dnmt 1 (DNA methyl transferase 1)
DNA protein that completes methylation of hemi-methylated DNA post replication
Maintenance methylation
Process that ensures cells derived from methylated parent cells are methylated in same genes
Gametes
Genomic imprinting occurs in what cells
Promotors/housekeeping
Most “CpG islands” are located in ________ regions and ____________ genes
T
(T/F) genome wide HYPOMETHYLATION is a property of all cancers examined to date
Hyper
(Hyper/Hypo)methylation of genes involved in DNA repair, differentiation, apoptosis, etc. is found in many cancers
Methyl
______ groups are necessary for methylation and come from our diet
F (Deacetylated)
(T/F) Methylated histones are acetylated
Pharmacogenetics
Refers to single gene interactions with drugs
Pharmacogenomics
The influence of genetic variation on drug response in patients
Cytochrome P450
Superfamily of proteins containing a heme cofactor. Proteins oxidize fat soluble products to make them water soluble
Excess
Heteromorphic alleles express an excess of