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KCSU17 Genetics > cancer > Flashcards

cancer Flashcards

1
Q

collection of disorders that share a common feature of uncontrolled cell growth

A

cancer

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2
Q

mass of cells

A

tumor AKA neoplasm

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3
Q

programmed cell death

A

apoptosis

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4
Q

malignant

A

infectious or virulent

invades neighboring cells/tissues, enter blood vessels and go to different sites

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5
Q

benign

A

not harmful in effect

grow only locally and can’t spread by invasion or metasiss

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6
Q

tumors of epithelial tissue

A

carcinoma

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7
Q

tumors of connective tissue

A

sarcoma

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8
Q

tumors of lymphatic tissue

A

lymphoma

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9
Q

tumors of glial cells of CNS

A

glioma

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10
Q

tumors of hematopoietic organs

A

leukemia

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11
Q

cancer

A

when cells fail to differentiate and begin to divide without constraint

typically is not the result of 1 mutation, result of multiple gene mutations over a period of time

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12
Q

why is age such a large factor in cancer

A

multiple gene mutations over time in dividing cells result in cancer

more time=more divisions

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13
Q

primary basis of carcinogenesis

A

genetic alteration of cell regulatory systems

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14
Q

what determines carcinogenesis

A

interaction of genes with environment

genes may predispose you to cancer development, but environment also plays a role

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15
Q

how is the cell cycle regulated

A

checkpoints

proteins participate in regulation thru complex series of interactions among activators and repressors of the cycle

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16
Q

if a regulator identifies a defect…

A

fix or induce apoptosis

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17
Q

pRb

A

inhibitor

bind to E2f and causes cell cycle to stop before S phase begins

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18
Q

cyclin D

A

activator, CDK

binds to pRb –> inactivates it via phosphorylation

releases E2f complex and allowing cell cycle to progress thru S

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19
Q

CDK inhibitors

A

inactivate CDKs

cause cell cycle to stop

cause pRB activation

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20
Q

examples of CDK inhibitors

A

p16 and p21

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21
Q

p53

A

acts thru p21

halts cell cycle or induces apoptosis in response to DNA damage

activates p21 to halt the cycle

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22
Q

tumor supressor genes

A

inhibit cellular proliferation and block uncontrolled cell division

prevents tumor participation

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23
Q

mutation of TSG means

A

regulatory product not present

cell divides uncontrollably

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24
Q

TSGs have ___ properties

A

recessive

both copies must be inactivated

requires 2nd hit

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25
TSG not present then...
loss of function mutation occurs in inhibitory factors of cell regulation
26
TSG =
break pedal
27
protooncogenes
non cancerous genes involved in basic regulation of normal cell function when mutation occurs here it becomes oncogene
28
oncogene
gene whose constantly active regulator product can lead to unregulated cell grown and differentiation oncogene = GAS pedal
29
oncogene activation via
1. retroviral transduction 2. point mutations 3. insertion mutations 4. chromosomal translocations
30
oncogenes have ___ properties
dominant only 1 req. mutated copy causes disease involves retrovirus
31
oncogenes are seen in which cell cancers
SOMATIC cell cancers not germline
32
types of viruses that give rise to tumor cells (non genetic)
1. virus w/DNA genome | 2. retroviruses
33
retroviruses
viruses with RNA genomes uses reverse transcriptase to transcribe RNA into DNA and insert oncogenes into DNA of host cell transforming host into tumor producing cell i.e. HIV or HTLV
34
TSG v. oncogene function of normal version
TSG - regulates cell growth and proliferation, induce apoptosis oncogene - promotes cell growth and proliferation
35
TSG v. oncogene mutation (at cell level)
TSG - recessive (both copies inactivated) oncogene - dominant (only one copy)
36
TSG v. oncogene effect of mutation
TSG - LOSS of function oncogene-- GAIN of function
37
DNA repair genes
repair structural abnormalities in DNA tumors can occur if these are defective some breast cancers are caused by defects here
38
retinoblastoma gene and cause (TSG or OG)
RB1 gene tumor supressor
39
retinoblastoma pathphys
RB1 gene encodes for pRb which down regulates cell cycle pRB inactivates E2F, applies a BREAK to the cell ***defective pRB leads to unregulated cell differentiation, causing a tumor****
40
TP53 gene
causes multiple cancer tumor supressor most commonly altered gene
41
types of TP53 mutations
1. TP53 germline mutations 2. TP53 somatic mutations 3. TP53 polymorphisms
42
Li-fraumeni syndrome
only inherited cancer syndrome with TP53 autosomal dominant
43
Li-fraumeni syndrome prevalence and age of onset
children/young adults
44
most common type of TP53 mutation?
somatic mutations 50% of all human tumors
45
TP53 somatic mutations are found in which % of tumors
70% of colorectal 40% of breast 60% of lungs 50% of all tumors
46
TP53 ,mutations genetic links
gene location on 17p13.1
47
TP53 protein product
tumor protein p53
48
TP53 pathophys
p53 regulates division and prevents amor formation interacts with genes to control cell cycle if damage is present can arrest cell cycle thru p21 or apoptosis
49
if TP53 is mutated
cells with damaged DNA may evade repair and destruction and continue replicating
50
Environmental influcens of TP53
DA can become damaged by toxic chemicals, radiation, or UV rays normally increases P53 carcinogenic substances induce specific TP53 mutations
51
benzopyrene
found in cig smoke, increases p53
52
Li-fraumeni syndrome clinicat presentations
associated with breast, osteosarcoma, brain tumors, and other cancers
53
colon cancer is from which genes
APC (tumor supressor) HNPCC (DNA repair)
54
APC gene
found in everyone tumor supressor on 5q21-q22 both copies myst be mutated for tumor progression
55
prevalence APC gene
85% of all sporadic colon tumors
56
APC gene | genetic predisposing factors
colon cancer is multi gene dz includes KRAS gene SMAD4 gene and TP53 gene
57
APC proteins control
how often cell divides how it attaches to other cells ensures correct chromosome # of cells during division
58
APT mutations (are/are not) sufficient enough to complete progression to metastatic dz
ARE NOT sufficient
59
FAP
FAMILIAL adenomatous polyposis characterized by early appearance of multiple adenomas or polyps of colon starting during ten years 100-1000s polyps formed, causing increased risk of cancer
60
colonic adenomas
precursors of colon cancer
61
FAP inheritance
autosomal dominant
62
FAP age of onset
39 years of age
63
milder type of FAP
autosomal recessive caused by MUTYH mutation fewer polyps (less than 100)
64
HNPCC
hereditary nonpolyposis colorectal cancer aka Lynch Syndrome
65
inheritance pattern of HNPCC
autosomal dominant
66
prevalence and age of onset HNPCC
2-5% of population those w/gene have 70-82% risk increase of colon cancer
67
genes linked to HNPCC
MLH1 MLH2 MSH2 MSH6 PMS6
68
genetic links to development HNPCC
DNA repair genes mutations in these genes are mismatch repair genes that confess increased lifetime riskto develop colorectal cancer
69
HNPCC pathophys
not as many polyps ad FAP but ea. polo is more likely to be cancer increased risk for uterine, ovarian, stomach, brain and other cancers too
70
clinical presentations of HNPCC
don't see multiple polyps but ea. polyp has high likelihood of become cancer
71
HNPCC v. FAP
FAP = lgr # of polyps, ea. low probability of developing cancer (still lg # = higher likelihood of developing cancer) HNPCC= presents at an earlier age, smaller number of polyps, ea. has hit probability for cancer
72
typical age of colonscopy
50 if familiar history, screen earlier
73
risk of colon cancer avg. risk
no family hx or 2nd/3rd degree relative had it begin screening at 50
74
risk of colon cancer moderate
two 1st degree relatives with CRC at any age, or 1 with CRC before age 60 begin colonoscopy at 40, screen every 5 yrs
75
risk of CRC w/HNPCC or suspected HNPCC
being colonoscopies at 20-25 | continue every 1-2 years
76
risk of CRC | FAP or suspect FAP
colonoscopies at 10-12 continue every 2 years
77
genes associated with breast cancer
BRCA 1 BRCA 2 DNA repair mechanisms defect
78
breast cancer inheritance factors
caused by both genetics and environment 5-10% of breast cancer is hereditary (1-3% from BRCA genes)
79
breast cancer prevalence
1 in 8 women
80
genetic predisposing factors of breast cancer
risk doubles if first degree relative is affected BRCA 1 and BRCA 2 are major contributors of INHERITED breast cancer
81
inheritance of BRCA genes
autosomal dominant
82
BRCA 1 on which choromosome
17q21
83
BRCA 2 on which chromosome
13q12.3
84
BRCA pathophys
mutations result in loss of function follow a two hit model for TSG participated in DNA repair process -- repair double stranded breaks inactivation of BRCA genes result in incorrect repair and instability
85
which population of women are at a higher risk
Ashkenazi Jew
86
BRCA 1 clinical presentations
50-80% increased risk for breast cancer | 20-50% risk for ovarian cancer
87
BRCA 2 clinical presentation
50% lifetime risk for breast cancer | 10-20% risk of ovarian
88
treatment protocols BRCA
mammogram at 25 for those w/family history pelvic exam 6-12 months CA=125 levels at age 25 prophylactic oophorectomy reduces BC risk by 50% and ovarian cancer risk by 90%
89
CML is which chromosome (and disorder)
philadelphia chromosome | translocation of chromosomes 9 and 22
90
chromosome 9 (CML)
proto-oncogene designated c-ABL
91
break in chromosome 22 occurs
in middle of gene detonated BCR
92
CML is which type (TSG or OG)
oncogene activation
93
CML pathophys
BCR fusion with c-ABL caucuses oncogene on FISH or karyotypic produces abnormal fusion protein that activates all the time and only affects myeloid cells (increase in number of PH-1 cells)
94
CML clinical presentation
another motion in protooncogene causes increased mitosis and blast iris (cells fail to differentiate)
95
treatment of CML
Gleevec prevent progression of disease by binding to active site of ABL Protein and inactivate it

KCSU17 Genetics (14 decks)

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