Oncogenes & Ts

Front 1

neoplasm

Back 1

uncontrolled cell division leading to tumor or mass

Front 2

malignant neoplasm

Back 2

cancer

Front 3

benign

Back 3

tumor that isn't cancerous

Front 4

Stages of cancer

Back 4

normal, hyperplasia, dysplasia, carcinoma (severe dysplasia), cancer (invasive)

Front 5

Types of cancer

Back 5

sarcoma, carcinoma, hematopoetic, lymphoid

Front 6

sarcoma

Back 6

cancer in bone and soft tissues

Front 7

carcinoma

Back 7

cancer in linings, skin, lumen, GI tract, lungs

Front 8

hematopoetic and lymphoid

Back 8

cancers from things made in the bone marrow, blood, immune

Front 9

Leading cancers in men/women

Back 9

lung, prostate/breast, colon

Front 10

oncogenes

Back 10

1st discovered by tumor virus, mutant gene results in abnormal cell proliferation, DOMINANT NEGATIVE EFFECT - mutation has effect on normal copy of gene, de novo and inherited

Front 11

inherited oncogenes

Back 11

MET (renal papillary carcinoma)
RET (thyriod, parathyroid, pheo)

Front 12

proto-oncogenes (activated)

Back 12

MYC, RAS (in cell just usually turn off)

Front 13

RET and MET both activate

Back 13

tyrosine kinases, inappropriately increase enzymatic activity and cell growth

Front 14

RAS

Back 14

GTPase, activates cell growth, survival, differentiation, attaches to PM, ON/OFF switch

Front 15

philadephia chromo

Back 15

9/22 translocation, cytogenetic abnormality, translocates proto oncogene, translocation turns off regulatory mech.

Front 16

burkitt lymphoma

Back 16

myc proto oncogene

Front 17

cancer causes general chromosomal instability

Back 17

inapprop. telomerase activity, defective checkpoints, probs with centromere function, defects in condensation

Front 18

tumor suppressors

Back 18

highly heterogeneous, typically work in regulation of cell cycle, inhibit growth via cell-cell contact, repairing DNA, recessive inheritance.

Front 19

retinoblastoma

Back 19

rare malignant retinal tumor, 1 in 20,000, two hit hypothesis, sometimes inherited sometimes not, inherited early age of onset...only one hit needed.

Front 20

two hit hypothesis math

Back 20

10^6 youll have mutation in gene, 10^12 that you'll have two mutations in that gene, 10^6 chance you'll have mutation in you already inherited first, that is, a million times more likely !

Front 21

RB1

Back 21

tumor supressor - retinoblastoma

Front 22

TP53

Back 22

tumor suppressor -
Li-Fraumeni

Front 23

NFB1

Back 23

tumor suppressor-
neurofromatosis

Front 24

BRCA

Back 24

tumor supressor-
breast and ovarian cancer

Front 25

MLH1, MSH2, MSH6, PMS2

Back 25

tumor suppressor -
lynch syndrome

Front 26

Tumor suppressor mutations

Back 26

deletion of part or whole gene, point mutations, dna methylation

Front 27

enviromental causes of cancer

Back 27

ionizing radiation,chemicals, hormones, virus'

Front 28

BRCA1 and 2 cause

Back 28

increased risk of breast cancer, 1 is on chrom17 and one on chrom13, dominant inhertiance, early onset >50

Front 29

preventative measures for BRAC1 2 carriers

Back 29

tamoxifen, mastectomy, bilateral spilogoorectomy

Front 30

HNPCC

Back 30

hereditary non polysis coleretal cancer, LYNCH SYNDROME, MSH2, MSH6,
MISmatchREPAIR pathway

Front 31

LYNCH SYNDROME may include subcutaneous tumors called __ or CNS tumors called ___.

Back 31

Muirre - Torre syndrome
Turcot syndrome

Tumors exhibit microsallites instability

Front 32

Microsatellites instability suggest what syndrome?

Back 32

Lyches

Front 33

What are microsatellites?

Back 33

Are stretches of repetitive sequences

Front 34

FAP

Back 34

Autosomal dominant, increase risk CC - Gardner syndrome (polys and soft tissue tumors) Turcot sydrome polys in CNS tumors

Front 35

Mutation of the APC gene in epithelial tissue

Back 35

DNA hypomethylation leads to epithelial hyperprofilerate

Front 36

Judging the quality of a genetic test:
Sensitivity
Specificity

Back 36

FALSE NEGATIVE RATE vs
FALSE POSITIVE RATE

Front 37

Does the test pick up other mutations?

Back 37

Specificity

Front 38

How well does the test detect the mutation?

Back 38

Sensitivity

Front 39

Different genes can cause the same mutation?

Back 39

locus heterogenity PDK1 PDK2

Front 40

Different mutations in the same gene can cause the same disease?

Back 40

allelic heterogenity, CFTR >1000 mutations

Front 41

In sickle cell beta globin there is how many mutations seen in that gene?

Back 41

ONE

Front 42

In CFTR how many mutations can be seen in that gene?

Back 42

>1000, delta508, 5t/5t absence of vans deferens

Front 43

familial hypertrophic myocardiomyopathy is inherited?

Back 43

AD, and x linked

Front 44

What is hemochromatosis inheritance pattern? What mutation causes 60% penetrance?

Back 44

Recessive, c282Y/c282y

Front 45

non paternity results in what %?

Back 45

5 to 30%

Front 46

Children should not be genetically tested unless there is ____

Back 46

IMMEDIATE medical benefit