Molecular Testing - Path

Front 1

used to detect the and localize the presence or absence of specific DNA sequences in chomosome using fluorescent probes which bind only to parts of chromosome which they show high degree of squence similarity

Back 1

FISH

Front 2

cycle threshold

Back 2

in PCR - the number of cycles of amplification beofre the targed is detected

Front 3

mircrosattelite instability (MSI)

Back 3

we all have microsattelites (repeats) but with tumor there may be expansion or contraction

Front 4

not only can MSI tell us if person is predisoposed but it can tell us

Back 4

how well someone may respond to therapy

Front 5

why is melt curve analysis helpful

Back 5

every pcr product has signiture melting point and you can look at a deviation from this and tell something is mutated - can be as sensitive as detecting one single base pair mutation - may be one degree difference.

Front 6

Gleevec blocks what

Back 6

BCR-ABL

Front 7

what might you use to detect BCR-ABL abnormal translocation

Back 7

FISH or real time RT-PCR

Front 8

Irinotecan is first line in therapy for collorectal cancer - how does its metabolism effect side effects seen by pat

Back 8

CPT-11 - SN-28 (active) - metabolized by UGt1A1 to inactive form -

it is how long it is active that is important - if person does not have this UGT1A1 enzyme - the active metabolite stays around too long and is toxic

detect abnormal enzyme polymorphism using PCR

Front 9

three steps in PCR

Back 9

1. denaturation of dsDNA leads to ss DNA

2. annealing of ssDNA and primer hybridization

3. extension - polymerase/DNA synthesis

denaturation, annealing, and extension only take 15,30 sec each in 1 PCR cycle

Front 10

how is traditional PCR different than RTPCR

Back 10

1. Traditional PCR: sample prep, PCR, Detection, and Analysis

2. Real time: sample prep, (PCR amplificaiton, detection, and analysis all in one step)

Front 11

molecular biomarkers (genetic variation, expression, variations, proteins, can be used to (name 4)

Back 11

1. detect cancer
2. Determine Prognosis
3. Monitor disease progression
4. Monitor therapeutic response

Front 12

Hybrid Capture (hc2) HPV DNA test uses what to differentiate between carcinogenic and low risk HPV types

Back 12

RNA probes

Front 13

can MSIs occur sporadically

Back 13

yes

Front 14

what is the hematologic response goal in CML

Back 14

normal PB values and spleen size

Front 15

what is the cytogenetic response therapeutic goal in CML

Back 15

reduction of Ph+ cells in blood or bone marrow

Front 16

what is the molecular response goal in CML

Back 16

reduction or elimination of bcr-abl mRNA in marrow or PB

Front 17

what might you use to detect if a gene is amplified or there is an abnormal number of chromosomes

e.g HER2 in breast cancer

Back 17

FISH

uses fluorescent probes which bind only those parts of the chromosome which they show a high degree of sequence similarirty

Front 18

a type of myeloproliferative disease associated with chracteristic chromosomal translocation called the Philadelphia chromosome

Back 18

CML

Front 19

a fusion protein produced in most cases of CML

Back 19

p210

Front 20

fusion produced in CML that results in chronic neutrophilic leukocytosis

Back 20

p230 BCR-ABL protein

Front 21

reduced expression in Crigler najiar Type 1 and Gilberts Syndrome

Back 21

UGTA1 - essential enzyme needed for the the drug Irinotecan