Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

EMS > Theme 5: Neoplasia - Part 5 > Flashcards

Theme 5: Neoplasia - Part 5 Flashcards

1
Q

What is pharmacokinetics?

A

what the body does to the drug

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are pharmacodynamics?

A

what the drug does the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the study of pharmacogenetics?

A

The study of inherited genetic differences in drug metabolism pathways which can affect an individual response to drugs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the genetic variations that affect the metabolism of drugs?

A 
Changes in protein:
-gene amplification
-promoter polymorphisms
-translocations
-deletions, insertions
-single nucleotide polymorphism 
= altered outcome to treatment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the different ways genetic variations can affect drug metabolism?

A
  • absorption: drug might be excreted and not enter body
  • activation: most drugs prescribed are inactive and require enzymes to activate
  • altered target - can no longer bind to particular enzyme
  • catabolism (breakdown) -build up of activated drug might have toxic effects
  • excretion - if transporters are mutated functions will be impaired
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are ADRs?

A

adverse drug reactions - account for 6.5% of UK hospital admissions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How can genetics help tailored treatment?

A

start with broad diagnosis - everybody receives the same medication (30-60% effective)
then tailor treatment to match an individuals makeup and response - more effective and fewer side effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How is Trastuzumab an example of personalised treatment?

A

A.k.a Herceptin

  • drug came about because it was found that 20% of breast cancers have over-expression of HER2
  • trastuzumab is a monoclonal antibody to the HER2 receptor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are BRAF inhibitors?

A
  • melanoma is resistant to chemotherapy treatment
  • ~50% of melanomas have a somatic mutation in the BRAF gene
  • vemurafenib îs a BRAF inhibitor used in chemo
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the most common type of genetic variant affecting drug metabolism?

A

SNPs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What does ADME stand for?

A

Absorption - how does drug get in
Distribution - where will it go?
Metabolism - how is it broken down?
Excretion - how does it leave?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what does TPMT do?

A
  • thiopurine methyltransferase

- inactivates certain drugs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does azathioprine do?

A

immunosuppressant used in organ transplantation and autoimmune disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is aminoglycoside induced hearing loss?

A
  • G>A mutation causes non-syndromic hearing loss at later stages
  • maternal inheritance
  • accounts for 30% of tendency to amino glycoside toxicity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What did the PALoH study discover?

A
  • most babies admitted to NICU are given gentamicin
  • 1 in 500 babies have a genetic change that predisposes to complete irreversible hearing loss when given gentamicin
  • a rapid molecular test has been developed which can tell if babies are susceptible to this drug
  • saves 200 babies every year from going death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is genetic counselling?

A

a communication process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

From what age can you have a genetic test?

A

From when your 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are examples of pre-natal genetic tests?

A
  • amniocentisis
  • transabdominal chorionic villus sampling
  • PGD (selective IVF) - pre-implanation genetic diagnosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the causes of childhood deafness?

A
  • 50% genetic cause

- 50% other causes e.g prematurity, infection during pregnancy, childhood infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the 5 most common types of cancer death in the world?

A
  1. Lung
  2. Colorectal
  3. Stomach
  4. Liver
  5. Breast
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What % of patients with lung cancer are operable by the time they’re diagnosed?

22
Q

What is going on at a cellular and tissue level that causes late presentation of lung cancer?

A

normal respiratory epithelium is changing to invasive malignant epithelium

23
Q

Explain the change of cell shape/type as lung cancer develops?

A
  1. In health, bronchial epithelial cells are pseudo-stratified
  2. changes to squamous metaplasia
  3. dysplasia - cells start to independently proliferate and grow uncontrollably
    low grade dysplasia - neoplastic cells grow just past the epithelium
    high grade dysplasia - whole epithelium can be replaced with neoplastic cells
  4. invasive carcinoma - neoplastic cells develop extra capabilities e.g movement (metastasis)
24
Q

Why are adhesion molecules lost in tumour cells?

A

so they can break away

25
What is lavage?
washing out of a body cavity with water or medicated solution
26
How can we subdivide lung carcinomas?
1. non-small cell carcinomas (80% of lung cancers) - squamous carcinoma - adenocarcinoma - undifferentiated large cell carcinoma 2. small cell carcinoma - most aggressive type of cancer, usually incurable
27
What is lymphadenopathy?
swelling of lymph nodes
28
What are some effects of a primary lung tumour?
- cough e.g tumour irritating airways triggering cough reflex - haemoptysis - if invasive tumour damages vessels it can lead to coughing up blood - SOB e.g tumour blocks airway
29
What are some effects of metastatic deposits?
- SOB - tumour in pleural cavities cause an effusion which restricts lung expansion - lumps e.g nodes, skin, bones - neurological signs e.g destruction of brain tissue by deposits - SVCO - superior vena cava obstruction
30
What are some systemic effects of lung cancer?
- weight loss - loss of appetite, changes in metabolism etc due to circulating tumour products like cytokines - hypercalcaemia e.g from osteolytic metastases and/or parathyroid hormone related protein secretion by tumour cells - paraneoplastic syndromes
31
From a cellular point of view, what may cause late presentation in lung cancer?
- The process of gaining malignant genetic mutations takes years - Dysplasia, carcinoma and metastasis may take a long time to develop - The growing and invading can happen over weeks and years - Intraepithelial changes will almost always be asymptomatic - Early invasive phases will almost always be asymptomatic
32
From an anatomical view point, what may cause late presentation of lung cancer?
- Symptoms can be vague and non-specific - There is reserve capacity in the lungs so loss of function of one small area does not necessarily cause symptoms - Lack of pain fibres within the lung parenchyma means that a lung tumour within the centre of the lung may be asymptomatic
33
Which tests can give you the diagnosis in a patient with a cancer of known primary? (CUP)
- CT scans - blood tumour markers - biopsy of the tumour with H&E stain - tells you type of tumour - immunohistochemistry on the biopsy - molecular testing of biopsy
34
Which test would be the most valuable in determining treatment options in advanced lung cancer - EGFR or KRAS mutation testing?
EGFR: - KRAS mutation is the most common aberration but we don't have targeted treatment so there is no point testing for this mutation - EGFR mutation testing - we have targeted treatment
35
What is the advantage of next generation sequencing our traditional sequencing technologies?
- Able to test multiple targets simultaneously - Able to test multiple patient samples simultaneously - Cheaper to test - coming down in price all the time but still incredibly expensive
36
What type of aberrations is FISH suited too?
gene rearrangements
37
Which cancer patients should be routinely screened for lynch syndrome?
endometrial and colorectal cancer
38
Explain the 6 steps in the metastatic cascade:
1. detachment 2. invasion 3. intravasation - invasion into blood vessel 4. evasion of host defences 5. adherence to endothelium 6. extravasation - tumour cells leave blood vessel
39
What are the 4 changes to allow invasion?
1. loss of cell-cell adhesion 2. secretion of proteolytic enzymes 3. increased cellular motility 4. changes to cell-matrix interaction allows cell to move into the stroma
40
What is a common site of metastasis from lung, brain, kidney, thyroid and prostate?
bone
41
What is Gleason's pattern scale?
cancerous cells in prostate cancer fall into 5 distinct patterns as they change from normal cells to tumor cells: 1. small, uniform glands 2. more stroma between glands .... 5. lack of or occasional glands, sheets of cells
42
what does mining of hematite and uranium expose workers to?
radon - a known carcinogen
43
What is EPIC?
- european prospective investigation into cancer and nutrition - one of the largest cohort studies in the world - designed to investigate the relationship between diet, nutritional status, lifestyle and environmental factors and the incidence of cancer
44
what are the categories of human carcinogens?
- chemicals e.g PAHs, nitroamines - infectious agents e.g HPV, helocibacter pylori - radiation e.g UV light, radon - minerals e.g asbestos, heavy metals - physiological e.g oestrogen, androgens
45
What does PAH stand for?
polycyclic aromatic hydrocarbons - class of chemical agents that are produced whenever organic material is burnt e.g toast, meat, fossil fuels, tobacco
46
which cancers would the following agents cause: 1. alcohol 2. asbestos 3. x-rays 4. uV light 5. oestrogen 6. tobacco 7. HepC
1. pharynx, larynx, oesophagus, liver 2. lung pleura 3. bone marrow (leukaemia) 4. skin 5. breast 6. mouth, lung, oesophagus 7. pancreas, kidney, bladder
47
How do promotors contribute to carcinogenesis?
1. they can stimulate the two rounds of DNA replication required for mutation fixation 2. they can stimulate clonal expansion of mutated cells, which enables the accumulation of further mutations
48
How does ataxia telangiectasia come about?
inherited defects in the ATM gene involved in recombinational repair pathway -these patients have elevated incidence of cancer
49
What cells link chronic inflammation and cancer?
- tumour-associated macrophages (TAMs) | - these cells are recruited by tumour cells and produce tumour necrosis factor-alpha (TNF-α)
50
What does TNF-α do?
a cytokine that induces and maintains the inflammatory response and release oxygen and nitrogen species that can act as carcinogens

EMS (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions