from lecture - genes, mechanisms Flashcards

1
Q

difference between passenger mutations and driver mutations

A

Passenger mutations occurs within tumours but cause no change in the phenotype present – don’t change properties of cells
Driver mutations are mutations the cell acquires in addition to the initial mutation that contributes to the development of cancer. Knowing these mutations allows targeted therapies

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2
Q

what are the 4 different methods of spread of metastases

A

trans-coelomic spread
lymphatic spread
hematogenous spread
perineurial spread

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3
Q

what is transcolomic spread

A

occurs when a malignant neoplasm penetrates into a natural open field lacking physical barriers eg peritoneal and pleural and pericardial and joint spaces.

e.g. ovarian cancer to peritoneal cavity

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4
Q

what is lymphatic spread

A

through lymphatic vessels located at tumour margins and follow drainage e.g. cervix to internal iliac

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5
Q

hematogenous spread

A

cells of primary tumour penetrate into blood tumour - venous or arterial

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6
Q

perineural spread

A

along a nerve

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7
Q

lung cancer spread too

A

adrenal glands, brain and bone

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8
Q

breast spread to

A

bone, liver lung and brain

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9
Q

colon spread to

A

liver

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10
Q

pancreatic spread to

A

liver and lugns

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11
Q

ovarian spread to

A

pleural cavity and lungs

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12
Q

prostate

A

bone

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13
Q

phases of metastatic cascade

A

invasion of Extracellular matrix - loosening up tumour cell interactions( normal epithelia glued by e-acdherins) , degradation of ECM , attachment tp ECM commonest and migration and invasion

vascular dissemination

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14
Q

In their normal, unmutated state, onocgenes are called

A

proto-oncognees

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15
Q

Mutagens

A

are agents that cause changes in DNA and can be chemical like tobacco tars or physical like x-rays

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16
Q

carcinogen

A

are mutagens and induce cancer through mutation of critical growth controlling genes in susceptible cells. Most carcinogens are mutagens but not all ,mutagens are carcinogens eg a protooncogene – once mutated may become an active oncogene driving cancerous growth

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17
Q

SRC

A

colon cancer

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18
Q

ABL

A

CML

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19
Q

erbB

A

breast cancer

20
Q

fms

A

AML

21
Q

raf and h-ras

A

bladder cancer

22
Q

what are proto oncogenes

A

normal gene often involved in normal growth control, may become oncogenes through mutation affecting a specific activity conferring a selective advantage

23
Q

ras oncogenen associated with

A

pancreas

24
Q

what type of mutation affects p53

A

• Missense mutations can inhibit p53 from binding to its target genes,

25
Q

cancer can be familial, hereditary ( germline) or sporadic ( somatic ) wha tis most common

A

Somatic mutations – initially arise in one cell

26
Q

indications of a gremlin mutation

A

Bilateral tumours or multifocal multi-germline
Young age
Certain histology eg triple negative breast cancer
Examination findings eg macrocephaly skin and abnormalities
Family history

27
Q

what does the Manchester score look for

A

The Manchester Scoring System (MSS) allows the calculation of the probability for the presence of mutations in the BRCA1 and BRCA2 genes in families suspected of having hereditary breast and ovarian cancer

28
Q

what is Lynch syndrome

A

lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types

29
Q

what is the difference between EBV causing bruits lymphoma, B cell lymphomas, and nasopharyngeal cancers

A

in the burkitt lymphomas 8:14 translocation is positive

B cell and naso its negative

30
Q

IS H.PYLORI A carcinogen

A

yes only bacteria

31
Q

what is flow cytometry

A

Flow Cytometry is a technique used to detect and measure physical and chemical characteristics of a population of cells or particles

32
Q

antigen specific T cells can control cancer this enables immunotherapeutics such as adoptive T cell transfer and checkpoint blockade eg

A

CTLA-4 and PD-1

33
Q

Pharmacogenetics

A

study of genetically determined variations that are revealed solely by the effects of drugs

34
Q

Pharmacogenomics

A

describes interaction between drugs and the whole genome

35
Q

allopurinol can cause

A

stevnes johnson syndrome

36
Q

what HIV drug that is a reverse transcriptase inhibitor can have adverse side effects

A

Abacavir

37
Q

pharmacokinetics

A
  • This the study of what body does to the drug
38
Q

4 commonest of pharmacokinetics

A
  • Absorption – substance entering blood circulation
  • Distribution – dissemination of substances through fluids and tissues of the body
  • metabolism is recognition by the organism that a foreign substance is present and the irreversible transformation of parents compounds into daughter metabolites – genetic variation most commonly affects this
  • excretion – removal of substance from the body
39
Q

types of metabolisers

A

ultra rapid – higher than usual
extensive – normal enzyme activity
intermediate – lower
poor metabolisers

poor may not help and ultra may leads to esymtposm of overdose

40
Q

what can cause repiroatry depression in children when

A

codeine

41
Q

Pharmacodynamics

A

drug to body

42
Q

treatment for CML

A

imatinib

Imatinib blocks ATP binding centre of Bcr-abl thus inhibiting its phosphorylation activity

43
Q

Colorectal cancer

EGFR overexpressed in most

A

Wild type KRAS is required for response to anti-EGFR targeted antibodies
KRAS mutant – no response to panitumumab
KRAS wild type more response to this

44
Q

in Her 2 postive ( human epidermal growth factor receptor 2) breast cancer what can we use to treat it

A

Trastuzumab is a HER2 targeting monoclonal antibody approved for treatment of HER2

PARp inhibitors are a treatment for some women who have a fault in one the BRCA genes and one of the following types of cacner, - ovarian, fallopian tube and peritoneal cancer

45
Q

Terminal illness or end stage disease

A

is a disease that cannot be cured or adequately treated and is reasonably expected to result in death of the patient

46
Q

coping

A

to struggle or deal especially on fairly even terms or with some degree of success
Deal with responsibilities, problems or difficulties especially successfully or in a calm or adequate manner

47
Q

Kupler ross stages

A
Shock and denial 
Anger 
Bargaining 
Depression
Acceptance