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PATH3309 > Module Three: Cancer Genetics > Flashcards

Module Three: Cancer Genetics Flashcards

1
Q

What is the multi-step model of cancer development?

A

The accumulation of genetic and epigenetic alterations resulting from the:
Activation of oncogenes resulting in excessive growth signals
Inactivation of tumour suppressor genes resulting in the removal of normal control

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2
Q

What is knudson’s two hit hypothesis?

A

Tumour suppressor genes act recessively i.e. Both copies of genes must be inactivated for growth control to be lost

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3
Q

What are the genes that are responsible for many familial cancers?

A

Rb, tp53, p16, BRAC1/2, APC, hMLH1

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4
Q

What are the limitations of gene therapy for cancer treatment?

A

Targeted delivery, expression, multiple TSG defects

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5
Q

What does the Rb code for?

A

Codes for a nuclear protein that is a major inhibitor of the cell cycle

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6
Q

Sporadic Rb1 gene mutations are found in what cancers?

A

Bone, lung and breast (and retinoblastoma)

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7
Q

What does the adenomatous polyposis coli gene have critical roles in?

A

Cell division and adhesion, regulates beta-catenin activity and the Wnt pathway

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8
Q

Germline mutations in APC are responsible for what syndrome?

A

Familial polyposis syndrome affecting the large bowl

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9
Q

95% of APC mutations cause what?

A

Frame shifts that lead to production of a truncated, inactive protein

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10
Q

What do the BRCA1 and 2 genes code for?

A

Codes for the proteins involved in the repair of damaged DNA

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11
Q

What inactivates BRCA1 in sporadic breast cancers?

A

Methylation

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12
Q

What genes encode for proteins that repair DNA mismatches arising during cell replication?

A

MLH1, MSH2, MSH6, PMS2

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13
Q

Inactivation of mismatch repair genes results in what?

A

Micro satellite instability

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14
Q

Germline mutations are responsible for?

A

Lynch syndrome

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15
Q

TP53 functions in:

A

Cell cycle arrest, DNA repair and apoptosis

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16
Q

What syndrome is a result of TP53 germ line mutations?

A

Li-Fraumeni Syndrome

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17
Q

Apart from mutation and chromosomal loss, TP53 can occur by what?

A

Binding to viral proteins

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18
Q

What viruses bind to TP53?

A

SV40, papilloma, Adenovirus

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19
Q

What can inhibit the activity of TP53 through feedback mechanism?

A

MDM2

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20
Q

How many regions does the central part of TP53 contain?

A

5

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21
Q

TP53 is a what?

A

Nuclear phosphoprotein

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22
Q

What are examples of low risk genetic factors?

A

Genes involved in carcinogen breakdown, DNA Repair

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23
Q

What cancers are associated with Lynch syndrome?dw

A

Colorectal, endometrial, rarer: gastric, renal

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24
Q

What are the five steps to genetic testing?

A

Step one: is a familial cancer syndrome likely based on the analysis of pedigree?
Step two: is there a family member who has had cancer and is willing to have genetic testing to find the specific mutation?
Step three: genetic testing => is a mutation detected in a known familial cancer syndrome gene?
Step 4: predictive testing is offered to other family members (with appropriate counselling)
Step 5: negative result: close surveillance not necessary
Positive: screening, prevention, surgery

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25
Q

Role of familial cancer clinics?

A

Risk assessment
Genetic testing
Counselling
Surveillance advice

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26
Q

Define: epigenetics

A

The study of DNA and chromatin modifications that persist from one cell division to the next, despite a lack of change in the underlying DNA sequence
Or
The study of heritable changes in gene expression that occur independent of changes in the primary DNA sequence

27
Q

Examples of epigenetic factors

A

DNA methylation of cytokines in CpG dinucleotides
His tone modification (acetylation and methylation of specific lysine residues on histones H3 and H4
Small non-coding RNA (microRNA)

28
Q

What are the two molecular pathways involved in bowel cancer

A

Chromosomal instability

CpG island methylator phenotype

29
Q

Where does methylation occur?

A

Cytosine residue of cytosine-p-guanine dinucleotides

30
Q

How does DNA methylation lead to silencing?

A

Directly inhibits the binding of transcription factors

31
Q

DNA methylation patterns are determined by an interplay between:

A

The environment (dietary folate, vitamins)
Age
DNA methyl transferase (DNMT1, DNMT 3A, DNMT3B)

32
Q

What are the challenges of demethylating agents?

A

Specificity and toxicity

33
Q

Genes that control cell cycle control ?

A

P73, p16, p15, p14

34
Q

Genes that control Regulation of apoptosis

A

DAP-kinase, p73

35
Q

Genes that control Invasion / tumour architecture

A

E-cadherin, VHL, APC, APC, TIMP3

36
Q

Growth factor receptors

A

ER, RARb

37
Q

Genes that control Drug uptake and sensitivity?

A

MDR1, MRP

38
Q

Genes that control DNA damage and repair?

A

MLH1, O6-MGMT, BRCA1

39
Q

What are micro satellites ?

A

Repetitive DNA sequences scattered throughout the genome

40
Q

What is microsatellite instability?

A

Shortening or lengthening of repeats in tumour DNA due to defective DNA mismatch repair mechanisms

41
Q

Where do the large majority of MSJ tumours occur?

A

Proximal colon

42
Q

What are the 6 hallmarks of cancer?

A 
Resisting cell death
Inducing angiogenesis
Enabling replicative immortality 
Sustaining proliferative signals 
Activating invasion and metastasis
Evading growth suppressors
43
Q

What transcription factors orchestrate EMT and are involved in most steps of invasion and metastasis?

A

Snail, slug, twist, zeb1/2

44
Q

What is the EMT

A

Epithelial Mesenchymal transition

45
Q

What are the emerging hallmarks of cancer development?

A

Deregulating cellular energetics

Avoiding immune destruction

46
Q

What are the enabling characteristics of the emerging hallmarks?

A

Genome instability and mutation

Tumour promoting infiltration

47
Q

Inflammatory cells that contribute to hallmark capabilities by releasing:

A

Growth factors that sustain proliferative signalling
Survival factors that limit cell death
Pro-angiogeneic factors

48
Q

What does a virion consist of?

A

Genome
Capsid
Membrane
Ligands

49
Q

What are the three viral shapes?

A

Helical
Polyhedral
Binal

50
Q

6 WHO recognised on oncoviruses?

A 
HBV
HCV
HPV
EBV
HIV-1
HTLV-1
51
Q

What is the mechanism of viral oncogenesis?

A

Virus
Cell
Integration
Transformation

52
Q

Viral genes interfere with control of cell cycle replication causing:

A

Loss of growth control
Reduced adhesion
Motility
Invasion

53
Q

Oncogene definition

A

A gene that has the potential to transform a normal cell into a malignant cell

54
Q

P53 is bound to what

A

Mdm2

55
Q

HPV causes what cancers?

A

Cervical, vulval, uterine, penile, anal, oral-pharyngeal

56
Q

HBV, HCV causes what cancer?

A

Hepatocellular

57
Q

EBV is associated with what cancers?

A

Burkitt’s lymphoma, Hodgkin’s lymphoma, nasopharyngeal, Duncan’s syndrome, B cell lymphoma

58
Q

KSHV/ HHV-8

A

Kaposi’s sarcoma

59
Q

MCV is associated with what cancer?

A

Merkel cell carcinoma

60
Q

HTLV-1 is associated with was cancer?

A

Adult T cell leukaemia

61
Q

What HPV strains are associated with cancer?

A

16 and 18

62
Q

What are the HPV vaccines?

A

Cervirax (bivalvent)

Gardasil (quadvalent)

63
Q

What cells does EBV infect?

A

B cells and epithelial cells

64
Q

EBV induces what chromosomal translocation?

A

8:14 translocation

Break in chromosome 14 at q32

PATH3309 (5 decks)

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