from lecture - genes, mechanisms

Question 1

difference between passenger mutations and driver mutations

Answer 1

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

Question 2

what are the 4 different methods of spread of metastases

Answer 2

trans-coelomic spread
lymphatic spread
hematogenous spread
perineurial spread

Question 3

what is transcolomic spread

Answer 3

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

Question 4

what is lymphatic spread

Answer 4

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

Question 5

hematogenous spread

Answer 5

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

Question 6

perineural spread

Answer 6

along a nerve

Question 7

lung cancer spread too

Answer 7

adrenal glands, brain and bone

Question 8

breast spread to

Answer 8

bone, liver lung and brain

Question 9

colon spread to

Answer 9

liver

Question 10

pancreatic spread to

Answer 10

liver and lugns

Question 11

ovarian spread to

Answer 11

pleural cavity and lungs

Question 12

prostate

Answer 12

bone

Question 13

phases of metastatic cascade

Answer 13

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

Question 14

In their normal, unmutated state, onocgenes are called

Answer 14

proto-oncognees

Question 15

Mutagens

Answer 15

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

Question 16

carcinogen

Answer 16

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

Question 17

SRC

Answer 17

colon cancer

Question 18

ABL

Answer 18

CML

Question 19

erbB

Answer 19

breast cancer

Question 20

fms

Answer 20

AML

Question 21

raf and h-ras

Answer 21

bladder cancer

Question 22

what are proto oncogenes

Answer 22

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

Question 23

ras oncogenen associated with

Answer 23

pancreas

Question 24

what type of mutation affects p53

Answer 24

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

Question 25

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

Answer 25

Somatic mutations – initially arise in one cell

Question 26

indications of a gremlin mutation

Answer 26

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

Question 27

what does the Manchester score look for

Answer 27

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

Question 28

what is Lynch syndrome

Answer 28

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

Question 29

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

Answer 29

in the burkitt lymphomas 8:14 translocation is positive | B cell and naso its negative

Question 30

IS H.PYLORI A carcinogen

Answer 30

yes only bacteria

Question 31

what is flow cytometry

Answer 31

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

Question 32

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

Answer 32

CTLA-4 and PD-1

Question 33

Pharmacogenetics

Answer 33

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

Question 34

Pharmacogenomics

Answer 34

describes interaction between drugs and the whole genome

Question 35

allopurinol can cause

Answer 35

stevnes johnson syndrome

Question 36

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

Answer 36

Abacavir

Question 37

pharmacokinetics

Answer 37

- This the study of what body does to the drug

Question 38

4 commonest of pharmacokinetics

Answer 38

- 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

Question 39

types of metabolisers

Answer 39

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

Question 40

what can cause repiroatry depression in children when

Answer 40

codeine

Question 41

Pharmacodynamics

Answer 41

drug to body

Question 42

treatment for CML

Answer 42

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

Question 43

Colorectal cancer | EGFR overexpressed in most

Answer 43

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

Question 44

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

Answer 44

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

Question 45

Terminal illness or end stage disease

Answer 45

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

Question 46

coping

Answer 46

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

Question 47

Kupler ross stages

Answer 47

``` Shock and denial Anger Bargaining Depression Acceptance ```