Genetics Final Material Flashcards

Cancer and stuff

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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
Q

F

A

(T/F) Most tumors carry only oncogenic or tumor suppressor gene mutations

25
Q

F (not usually)

A

(T/F) Oncogenes are sometimes implicated in inherited cancer

26
Q

T

A

(T/F) Proto-oncogenes are normal cell genes coding for proteins homologous to the viral ones

27
Q

Mutator

A

The _______ phenotype is linked to mutations in

DNA mismatch repair and DNA replication genes

28
Q

Microsatellite instability

A

Mutations in MMR machinery parallel tumor suppressor genes and lead to what?

29
Q

T

A

(T/F) Translocations can generate new genes or move genes to a different regulatory promoter

30
Q

A

A

Many leukemias develop from:
A) Gross chromosomal translocations
B) Oncogene mutations
C) Tumor suppressor gene mutations

31
Q

C-ABL

A

_____ is a non-receptor tyrosine kinase that shuttles between the cytoplasm and the nucleus

32
Q

BCR-ABL

A

_______ is constitutively active and activates downstream proteins: ras and AKT and prevents apoptosis

33
Q

Mutator Genes

A

_____________ are a subtype of tumor suppressor genes
that enhance genomic instability and increase the risk
of cancer

34
Q

CpG (C -> G)

A

Dinucleotides that are covalent chemical DNA modifications most commonly methlyated

35
Q

Epigenetic Trait

A

A stable, mitotically and meiotically heritable phenotype that results from changes in gene expression

36
Q

Dnmt 1 (DNA methyl transferase 1)

A

DNA protein that completes methylation of hemi-methylated DNA post replication

37
Q

Maintenance methylation

A

Process that ensures cells derived from methylated parent cells are methylated in same genes

38
Q

Gametes

A

Genomic imprinting occurs in what cells

39
Q

Promotors/housekeeping

A

Most “CpG islands” are located in ________ regions and ____________ genes

40
Q

T

A

(T/F) genome wide HYPOMETHYLATION is a property of all cancers examined to date

41
Q

Hyper

A

(Hyper/Hypo)methylation of genes involved in DNA repair, differentiation, apoptosis, etc. is found in many cancers

42
Q

Methyl

A

______ groups are necessary for methylation and come from our diet

43
Q

F (Deacetylated)

A

(T/F) Methylated histones are acetylated

44
Q

Pharmacogenetics

A

Refers to single gene interactions with drugs

45
Q

Pharmacogenomics

A

The influence of genetic variation on drug response in patients

46
Q

Cytochrome P450

A

Superfamily of proteins containing a heme cofactor. Proteins oxidize fat soluble products to make them water soluble

47
Q

Excess

A

Heteromorphic alleles express an excess of