cancer Flashcards
1
Q
cancer?
A
a bunch of disorders that all have uncontrollable cell growth; they’re all resistant to signals that normally inhibit cell growth
2
Q
neoplasm/tumor
A
mass of cells due to uncontrolled cell growth
3
Q
tumorigenesis
A
formation of tumors
4
Q
apoptosis
A
cell death
5
Q
angiogenesis
A
formation of new bv
6
Q
malignant
A
tumor that invades nearby tissues
7
Q
metastasis
A
tumor that spreads to distant sites
8
Q
benign
A
tumor that goes not invade tissue or metastasize
9
Q
carcinogen
A
cancer causing agent
10
Q
process of carcinogenesis?
A
- cells become resistant to signals that normally inhibit cells growth
- cells disable apoptosis
- new blood supply obtained through angiogenesis nourish tumor
- cancer cells override other signals to become malignant
- tumor metastasizes
11
Q
how does cancer progress
A
over time, but when they start to proliferate, progression can occur fast
12
Q
how are tumors classified?
A
type of tissue they arise from
13
Q
carcinoma?
A
cancer of epithelial tissue
14
Q
sarcoma?
A
cancer of CT
15
Q
lymphoma?
A
cancer of lymphatic tissue
16
Q
glioma?
A
cancer of glial cells of CNS
17
Q
leukemia?
A
cancer of hematopeietic organs
18
Q
all cancer is _________
A
genetic
19
Q
what do growth factors do
A
transmit signals from cell to cell
20
Q
growth factor receptors?
A
on surface of cells that bind to growth factors
21
Q
what do signal transduction molecules do
A
activate a chain of phosphorylating rxns in the cell changing the activity of different proteins within the cell
22
Q
where are nuclear transcription factors located? what do they do?
A
in nucleus; regulate dna transcription by interpreting signals to grow, stop growing, and differentiate
23
Q
what do tumor suppressor genes do
A
inhibit cell growth and prevent tumors; block uncontrolled cell growth
24
Q
what do onco genes do
A
activate cell growth
25
retinoblastoma is an example of what type of gene
tumor suppressor
26
what do onco genes originate from
protoonco genes
27
mutations in oncogenes lead to what
unregulated cell growth and differentiation
28
are oncogene mutations gain or loss of function
gain of function
29
knudsons 2 hit hypothesis refers to: oncogenes or tumor suppressor genes
tumor suppressor genes
30
what does knudsons 2 hit hypothesis say
cells may have one hit in their germline at birth or the first hit may be somatic
31
when retinoblastoma gene RB1 is mutated, what occurs
permeant inactivation which means there are no brakes on the cell cycle and cell division is uncontrolled
32
how many mutations do you need in oncogenes to get a tumor? tumor supressor?
onco- 1
| tumor suppressor- 2
33
leukemias and lymphomas are in oncogenes or tumor suppressor genes?
oncogenes
34
somatic changes are in oncogenes or tumor suppressor genes?
oncogenes
35
how can conversion from proto-oncogene to oncogene occur
mutation in dna coding sequence, gene amplification, or chromosome rearrangement
36
what is HER2/NEU
oncogene amplified in 20-30% of invasive breast cancers
37
these genes regulate cell growth and proliferation
tumor suppressor genes
38
these genes promote cell growth and proliferation
oncogenes
39
these genes behave in a dominant fashion bc you only need one hit
oncogenes
40
these genes behave in a recessive pattern bc 2 copies of the gene must be mutated
tumor suppressor
41
3 stages of carcinogenesis
initiation, promotion, and progression
42
cells can divide_____ times before they can no longer divide
50-70
43
with each cell division, these shorten
telomeres
44
when telomeres are shortened to a certain length, what happens
signal is transmitted causing it to no longer be able to divide
45
telomerase?
gene activated by tumor cells that allow them to replace telomeric segments lost during cell division
46
telomerase is found in _____% of all tumor cells
85-90%
47
____ of ppl are diagnosed with cancer at some point in their lives
1/2
48
____ of deaths are due to cancer
1/4
49
____% of cancers are hereditary
5-10%
50
____% of cancers are sporadic
75-85%
51
____% of cancers are familial
10-15%
52
____% of ovarian cancers are hereditary
20-25%
53
high risk for ca based on FHx? low? moderate? (either hereditary, familial ,or sporadic)
low- sporadic
moderate- familial
high- hereditary
54
why is FH is ca unreliable
many pt dont know the details of their FH like the specific site of the tumor or the age they got it
55
what is crucial in order to accurately assess the risk of someone getting CA
accurate FH
56
there is little or no FH in this type of cancer (sporadic or inherited)
sporadic
57
there are multiple generations with CA in this type (sporadic or inherited)
inherited
58
this CA usually has a later onset like age 60-70 (sporadic or inherited)
sporadic
59
this CA usually has an earlier onset like ages 50 or below (sporadic or inherited)
inherited
60
these cancers are usually single or unilateral tumors (sporadic or inherited)
sporadic
61
breast or ovarian cancer is usually (sporadic or inherited)
inherited
62
colon cancer is mainly (sporadic or inherited)
hereditary
63
what are the causes of colon cancer?
sporadic (65-85%), familial (10-30%), lynch syndrome (5%), and familial adenomatous polyposis FAP (1%)
64
what is lynch syndrome HNPCC?
early diagnosis of CRC where tumors are mainly in the right/proximal side of the colon; general population is more sporadic and has tumors in the left side of the colon
65
with lynch syndrome there are other extracolonic cancers families might have. What are these?
endometrium, ovarian, stomach, urinary tract, small bowel, bile duct, sebaceous skin
66
what is the 321 rule for diagnosing lynch syndrome
3 or more relatives with HNPCC
2 or more generations
1 case of a 1st degree relative of
67
easier criteria for looking lynch synd
colon or endometrial CA dx under 50yo
colon or endometrial CA dx over 50 yo if pt has a first degree relative with colon or endometrial CA
pt has more than 1 primary lynch synd associated CA
68
genes associated with lynch belong to the _____ family
mismatch repair (MMR)
69
mutations in MMR cause what
microsatellite instability
70
95% of tumors in this disease are microsatellite instability positive
lynch/ HNPCC
71
what is microsatellite instability
repetitive DNA sequences 1-4 nucleotides (microsatellites) normally found on genome
72
mmr?
recognize errors in dna repliation
73
what is missing in the tumor tissue of lynch making immunohistochemical staining useful
mmr proteins
74
steps in screening for lynch
1. screen tumor for MSI via IHC
| 2. targeted mmr gene mutation analysis
75
are MMR proteins normally present on immunohistochemistry
yes, if they are absent, the gene is not being expressed
76
MLH1 and MSH 2 has what type of risk for CA
high
77
MSH 6 has what type of risk for CA
moderate
78
PMS 2 has what type of risk for CA
low
79
MSI and IHC are diagnostic or screening methods
screening
80
LS management for colon ca
colonoscopy beg at age 20-25 every 1-2 yrs or total abdominal colectomy for colon ca or multiple myelomas/ unresectable polyp
81
LS management for endometrial ca
annual transvaginal ultrasound (TVU) and endometrial aspitate starting at age 30-35, TAH/BSO after childbearing
82
inheritance pattern for lynch
AD
83
is testing kids for adult onset cancer recommended
not unless it'll affect management
84
most hospitals do ___ and ____ when they suspect cancer from lynch
MSI and IHC
85
if we do IHC and see a protein is absent and suspect LS, what should be done next?
direct dna testing on a blood sample
86
when does the general pop start getting screened for colon ca
age 50
87
when does someone with a fh of ca start getting screened for colon ca
age10 yrs before relative was diagnosed
88
GINA stand for?
genetics information nondiscrimatory act
89
what does gina say
says that health insurance and employers cannot consider genetics as a preexisting condition, but it does not protect an individual from life, long term care, or disability insurance
90
if someone has 2 mutations in the MMR gene what might they have
constitutional mismatch repair deficiency syndrome (CMMRD)
91
if someone has LS that was inherited in an autosomal recessive pattern, what may be different about it
they may have childhood presentations of cancers like hematological malignancies, brain tumors, or colon, small bowel, gastric, urologic (same as LS)
92
what therapy is used to treat colon ca
5 FU adjuvant therapy
93
this therapy may be beneficial for MSI-H tumors
anti PD 1
94
this is a common cause of hereditary CRC
LS
95
familial adenomatous polyposis (FAP) is a ____ type of cancer
hereditary
96
ppl with familial adenomatous polyposis (FAP) are at risk for what
extracolonic tumors (upper GI, desmoid, brain, thyroid...)
97
what do untreated polyposis lead to in familial adenomatous polyposis (FAP) ?
100% risk of cancer
98
estimated penetrance for adenomas in familial adenomatous polyposis (FAP)
90%
99
MUTYH- associated polyposis (MAP) is what type of inheritance
autosomal recessive
100
Y179C and G382D are common mutations in this disease
MUTYH- associated polyposis (MAP)
101
1-2% of the population are carriers for this disease
MUTYH- associated polyposis (MAP)
102
you can have this condition with no FH bc its autosomal recessive
MUTYH- associated polyposis (MAP)
103
is breast cancer common
yes, about 1 in 8 women get it
104
how is breast cancer inherited
autosomal dominant
105
T or F: cancer on the fathers side does not count
F
106
ovarian cancer is more likely to be hereditary and many of the hereditary causes of ovarian cancer also increase ones risk for this
breast cancer
107
is the age of dx or number of women with breast cancer more important in family hx
age of dx
108
these 2 genes play a HUGE role in hereditary causes of breast cancer
BRCA 1 and BRCA 2
109
Partner and localizer of BRCA2
PALB2
110
homozygous mutations in this cause fanconi anemia
BRCA 2 and PALB2
111
PTEN gene is in this syndrome
cowden syndrome
112
cowden syndrome greatly increases risk for this cancer
breast
113
TP53 gene mutation is in this syndrome
Li-Fraumeni syndrome
114
early onset breast cancer, bone/soft tissue sarcomas, brain tumors, leukemia, adrenocortical tumors are in this syndrome
Li-Fraumeni syndrome
115
these syndromes affects kids
Li-Fraumeni syndrome and multiple endocrine neoplasia
116
genes CDKN2A and CDK4 are in this hereditary cancer
familial melanoma
117
CDKN2A is a _____________ (tumor suppressor or oncogene)
tumor suppressor
118
CDK4 is a _____________ (tumor suppressor or proto-oncogene)
proto-oncogene
119
loss of this gene causes loss of p16 activity which eliminates cell cycle regulation
CDKN2A
120
CDK4 mutation causes a _____ of function
gain
121
mutation in this gene down regulates pRb causing lack of cell cycle control
CDK4
122
mutations in these genes can lead to inc risk of melanomas, moles, and pancreatic cancers
CDKN2A and CDK4
123
slide 121
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