Genetics Final Material Flashcards

Cancer and stuff

0
Q

Less

A

Malignant tumors are generally (more/less) differentiated than the tissues from which they develop

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1
Q

Somatic

A

Carcinogenic mutations from both internal and external sources occur mostly in _______ cells

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2
Q

Driver Mutation

A

Mutation that directly leads to cancer

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3
Q

Passenger Mutation

A

Mutation that leads to genomic instability, but does not directly lead to cancer

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4
Q

TERT (Telomerase reverse transcriptase)

A

Activation of a subunit of telomerase, ____, allows cancer cells to avoid replicative senescence

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5
Q

VEGF (Vascular endothelial growth factor)

A

Proliferation of ____ signal protein leads to sustained angiogenesis is many cancer cells

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6
Q

Dominant

A

Oncogenic mutations act in a (dominant/recessive) fashion

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7
Q

EGFR (Endothelial growth factor receptor)

A

Growth factor oncogene that leads to proliferation

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8
Q

c-SRC

A

Signal transduction EZ that was the first identified human oncogene.

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9
Q

Ras

A

GTP binding proto-oncogene whose mutated form is locked into a permanently “on” state

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10
Q

ERBB (HER1-4)

A

A receptor tyrosine kinase (RTK) superfamily that
consists of the epidermal growth factor (EGF) receptors
and additional three members

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11
Q

T

A

(T/F) The EGFR oncogene is altered in many epithelial tumors by diverse mechanisms

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12
Q

Tumor suppressor genes

A

Genes that function to prevent malignant transformation and restrain cell growth

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13
Q

T

A

Tumor suppressor gene mutations can be somatic or in the germline

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14
Q

Recessive (one is enough to prevent cancer)

A

Tumor suppressor genes typically act in a (dominant/recessive) fashion

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15
Q

Germinal

A

In hereditary cancers the first tumor suppressor gene mutation is (somatic/germinal)

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16
Q

Haplosufficient

A

If a tumor suppressor gene heterozygote doesn’t develop tumors they are considered _______________

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17
Q

Haploinsufficient

A

If a tumor suppressor gene heterozygote does develop tumors they are considered _________________

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18
Q

p53

A

Best known tumor suppressor gene transcription factor that is mutated in 50-70% of all cancers

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19
Q

Tissue specific

A

BRCA1 and rb are ______ ________ mutations of tumor suppressor genes

20
Q

Gatekeepers

A

Tumor suppressor genes directly regulating tumor growth by inhibiting their growth or promoting their death (rb, p53)

21
Q

Caretakers

A

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)

22
Q

Caretaker

A

Mutation of (gatekeeper/caretaker) tumor suppressor genes usually occurs first

23
Q

G1/S

A

The wild type genes of Rb and p53

24
F
(T/F) Most tumors carry only oncogenic or tumor suppressor gene mutations
25
F (not usually)
(T/F) Oncogenes are sometimes implicated in inherited cancer
26
T
(T/F) Proto-oncogenes are normal cell genes coding for proteins homologous to the viral ones
27
Mutator
The _______ phenotype is linked to mutations in | DNA mismatch repair and DNA replication genes
28
Microsatellite instability
Mutations in MMR machinery parallel tumor suppressor genes and lead to what?
29
T
(T/F) Translocations can generate new genes or move genes to a different regulatory promoter
30
A
Many leukemias develop from: A) Gross chromosomal translocations B) Oncogene mutations C) Tumor suppressor gene mutations
31
C-ABL
_____ is a non-receptor tyrosine kinase that shuttles between the cytoplasm and the nucleus
32
BCR-ABL
_______ is constitutively active and activates downstream proteins: ras and AKT and prevents apoptosis
33
Mutator Genes
_____________ are a subtype of tumor suppressor genes that enhance genomic instability and increase the risk of cancer
34
CpG (C -> G)
Dinucleotides that are covalent chemical DNA modifications most commonly methlyated
35
Epigenetic Trait
A stable, mitotically and meiotically heritable phenotype that results from changes in gene expression
36
Dnmt 1 (DNA methyl transferase 1)
DNA protein that completes methylation of hemi-methylated DNA post replication
37
Maintenance methylation
Process that ensures cells derived from methylated parent cells are methylated in same genes
38
Gametes
Genomic imprinting occurs in what cells
39
Promotors/housekeeping
Most "CpG islands" are located in ________ regions and ____________ genes
40
T
(T/F) genome wide HYPOMETHYLATION is a property of all cancers examined to date
41
Hyper
(Hyper/Hypo)methylation of genes involved in DNA repair, differentiation, apoptosis, etc. is found in many cancers
42
Methyl
______ groups are necessary for methylation and come from our diet
43
F (Deacetylated)
(T/F) Methylated histones are acetylated
44
Pharmacogenetics
Refers to single gene interactions with drugs
45
Pharmacogenomics
The influence of genetic variation on drug response in patients
46
Cytochrome P450
Superfamily of proteins containing a heme cofactor. Proteins oxidize fat soluble products to make them water soluble
47
Excess
Heteromorphic alleles express an excess of