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cancer Flashcards

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Biology 101 flashcards USMLE® Step 1 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

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2
Q

neoplasm/tumor

A

mass of cells due to uncontrolled cell growth

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3
Q

tumorigenesis

A

formation of tumors

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4
Q

apoptosis

A

cell death

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5
Q

angiogenesis

A

formation of new bv

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6
Q

malignant

A

tumor that invades nearby tissues

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7
Q

metastasis

A

tumor that spreads to distant sites

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8
Q

benign

A

tumor that goes not invade tissue or metastasize

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9
Q

carcinogen

A

cancer causing agent

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10
Q

process of carcinogenesis?

A
  1. cells become resistant to signals that normally inhibit cells growth
  2. cells disable apoptosis
  3. new blood supply obtained through angiogenesis nourish tumor
  4. cancer cells override other signals to become malignant
  5. tumor metastasizes
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11
Q

how does cancer progress

A

over time, but when they start to proliferate, progression can occur fast

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12
Q

how are tumors classified?

A

type of tissue they arise from

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13
Q

carcinoma?

A

cancer of epithelial tissue

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14
Q

sarcoma?

A

cancer of CT

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15
Q

lymphoma?

A

cancer of lymphatic tissue

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16
Q

glioma?

A

cancer of glial cells of CNS

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17
Q

leukemia?

A

cancer of hematopeietic organs

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18
Q

all cancer is _________

A

genetic

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19
Q

what do growth factors do

A

transmit signals from cell to cell

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20
Q

growth factor receptors?

A

on surface of cells that bind to growth factors

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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

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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

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23
Q

what do tumor suppressor genes do

A

inhibit cell growth and prevent tumors; block uncontrolled cell growth

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24
Q

what do onco genes do

A

activate cell growth

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25
Q

retinoblastoma is an example of what type of gene

A

tumor suppressor

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26
Q

what do onco genes originate from

A

protoonco genes

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27
Q

mutations in oncogenes lead to what

A

unregulated cell growth and differentiation

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28
Q

are oncogene mutations gain or loss of function

A

gain of function

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29
Q

knudsons 2 hit hypothesis refers to: oncogenes or tumor suppressor genes

A

tumor suppressor genes

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30
Q

what does knudsons 2 hit hypothesis say

A

cells may have one hit in their germline at birth or the first hit may be somatic

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31
Q

when retinoblastoma gene RB1 is mutated, what occurs

A

permeant inactivation which means there are no brakes on the cell cycle and cell division is uncontrolled

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32
Q

how many mutations do you need in oncogenes to get a tumor? tumor supressor?

A

onco- 1

tumor suppressor- 2

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33
Q

leukemias and lymphomas are in oncogenes or tumor suppressor genes?

A

oncogenes

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34
Q

somatic changes are in oncogenes or tumor suppressor genes?

A

oncogenes

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35
Q

how can conversion from proto-oncogene to oncogene occur

A

mutation in dna coding sequence, gene amplification, or chromosome rearrangement

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36
Q

what is HER2/NEU

A

oncogene amplified in 20-30% of invasive breast cancers

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37
Q

these genes regulate cell growth and proliferation

A

tumor suppressor genes

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38
Q

these genes promote cell growth and proliferation

A

oncogenes

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39
Q

these genes behave in a dominant fashion bc you only need one hit

A

oncogenes

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40
Q

these genes behave in a recessive pattern bc 2 copies of the gene must be mutated

A

tumor suppressor

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41
Q

3 stages of carcinogenesis

A

initiation, promotion, and progression

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42
Q

cells can divide_____ times before they can no longer divide

A

50-70

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43
Q

with each cell division, these shorten

A

telomeres

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44
Q

when telomeres are shortened to a certain length, what happens

A

signal is transmitted causing it to no longer be able to divide

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45
Q

telomerase?

A

gene activated by tumor cells that allow them to replace telomeric segments lost during cell division

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46
Q

telomerase is found in _____% of all tumor cells

A

85-90%

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47
Q

____ of ppl are diagnosed with cancer at some point in their lives

A

1/2

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48
Q

____ of deaths are due to cancer

A

1/4

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49
Q

____% of cancers are hereditary

A

5-10%

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50
Q

____% of cancers are sporadic

A

75-85%

51
Q

____% of cancers are familial

A

10-15%

52
Q

____% of ovarian cancers are hereditary

A

20-25%

53
Q

high risk for ca based on FHx? low? moderate? (either hereditary, familial ,or sporadic)

A

low- sporadic
moderate- familial
high- hereditary

54
Q

why is FH is ca unreliable

A

many pt dont know the details of their FH like the specific site of the tumor or the age they got it

55
Q

what is crucial in order to accurately assess the risk of someone getting CA

A

accurate FH

56
Q

there is little or no FH in this type of cancer (sporadic or inherited)

A

sporadic

57
Q

there are multiple generations with CA in this type (sporadic or inherited)

A

inherited

58
Q

this CA usually has a later onset like age 60-70 (sporadic or inherited)

A

sporadic

59
Q

this CA usually has an earlier onset like ages 50 or below (sporadic or inherited)

A

inherited

60
Q

these cancers are usually single or unilateral tumors (sporadic or inherited)

A

sporadic

61
Q

breast or ovarian cancer is usually (sporadic or inherited)

A

inherited

62
Q

colon cancer is mainly (sporadic or inherited)

A

hereditary

63
Q

what are the causes of colon cancer?

A

sporadic (65-85%), familial (10-30%), lynch syndrome (5%), and familial adenomatous polyposis FAP (1%)

64
Q

what is lynch syndrome HNPCC?

A

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
Q

with lynch syndrome there are other extracolonic cancers families might have. What are these?

A

endometrium, ovarian, stomach, urinary tract, small bowel, bile duct, sebaceous skin

66
Q

what is the 321 rule for diagnosing lynch syndrome

A

3 or more relatives with HNPCC
2 or more generations
1 case of a 1st degree relative of

67
Q

easier criteria for looking lynch synd

A

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
Q

genes associated with lynch belong to the _____ family

A

mismatch repair (MMR)

69
Q

mutations in MMR cause what

A

microsatellite instability

70
Q

95% of tumors in this disease are microsatellite instability positive

A

lynch/ HNPCC

71
Q

what is microsatellite instability

A

repetitive DNA sequences 1-4 nucleotides (microsatellites) normally found on genome

72
Q

mmr?

A

recognize errors in dna repliation

73
Q

what is missing in the tumor tissue of lynch making immunohistochemical staining useful

A

mmr proteins

74
Q

steps in screening for lynch

A
  1. screen tumor for MSI via IHC

2. targeted mmr gene mutation analysis

75
Q

are MMR proteins normally present on immunohistochemistry

A

yes, if they are absent, the gene is not being expressed

76
Q

MLH1 and MSH 2 has what type of risk for CA

A

high

77
Q

MSH 6 has what type of risk for CA

A

moderate

78
Q

PMS 2 has what type of risk for CA

A

low

79
Q

MSI and IHC are diagnostic or screening methods

A

screening

80
Q

LS management for colon ca

A

colonoscopy beg at age 20-25 every 1-2 yrs or total abdominal colectomy for colon ca or multiple myelomas/ unresectable polyp

81
Q

LS management for endometrial ca

A

annual transvaginal ultrasound (TVU) and endometrial aspitate starting at age 30-35, TAH/BSO after childbearing

82
Q

inheritance pattern for lynch

A

AD

83
Q

is testing kids for adult onset cancer recommended

A

not unless it’ll affect management

84
Q

most hospitals do ___ and ____ when they suspect cancer from lynch

A

MSI and IHC

85
Q

if we do IHC and see a protein is absent and suspect LS, what should be done next?

A

direct dna testing on a blood sample

86
Q

when does the general pop start getting screened for colon ca

A

age 50

87
Q

when does someone with a fh of ca start getting screened for colon ca

A

age10 yrs before relative was diagnosed

88
Q

GINA stand for?

A

genetics information nondiscrimatory act

89
Q

what does gina say

A

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
Q

if someone has 2 mutations in the MMR gene what might they have

A

constitutional mismatch repair deficiency syndrome (CMMRD)

91
Q

if someone has LS that was inherited in an autosomal recessive pattern, what may be different about it

A

they may have childhood presentations of cancers like hematological malignancies, brain tumors, or colon, small bowel, gastric, urologic (same as LS)

92
Q

what therapy is used to treat colon ca

A

5 FU adjuvant therapy

93
Q

this therapy may be beneficial for MSI-H tumors

A

anti PD 1

94
Q

this is a common cause of hereditary CRC

A

LS

95
Q

familial adenomatous polyposis (FAP) is a ____ type of cancer

A

hereditary

96
Q

ppl with familial adenomatous polyposis (FAP) are at risk for what

A

extracolonic tumors (upper GI, desmoid, brain, thyroid…)

97
Q

what do untreated polyposis lead to in familial adenomatous polyposis (FAP) ?

A

100% risk of cancer

98
Q

estimated penetrance for adenomas in familial adenomatous polyposis (FAP)

A

90%

99
Q

MUTYH- associated polyposis (MAP) is what type of inheritance

A

autosomal recessive

100
Q

Y179C and G382D are common mutations in this disease

A

MUTYH- associated polyposis (MAP)

101
Q

1-2% of the population are carriers for this disease

A

MUTYH- associated polyposis (MAP)

102
Q

you can have this condition with no FH bc its autosomal recessive

A

MUTYH- associated polyposis (MAP)

103
Q

is breast cancer common

A

yes, about 1 in 8 women get it

104
Q

how is breast cancer inherited

A

autosomal dominant

105
Q

T or F: cancer on the fathers side does not count

A

F

106
Q

ovarian cancer is more likely to be hereditary and many of the hereditary causes of ovarian cancer also increase ones risk for this

A

breast cancer

107
Q

is the age of dx or number of women with breast cancer more important in family hx

A

age of dx

108
Q

these 2 genes play a HUGE role in hereditary causes of breast cancer

A

BRCA 1 and BRCA 2

109
Q

Partner and localizer of BRCA2

A

PALB2

110
Q

homozygous mutations in this cause fanconi anemia

A

BRCA 2 and PALB2

111
Q

PTEN gene is in this syndrome

A

cowden syndrome

112
Q

cowden syndrome greatly increases risk for this cancer

A

breast

113
Q

TP53 gene mutation is in this syndrome

A

Li-Fraumeni syndrome

114
Q

early onset breast cancer, bone/soft tissue sarcomas, brain tumors, leukemia, adrenocortical tumors are in this syndrome

A

Li-Fraumeni syndrome

115
Q

these syndromes affects kids

A

Li-Fraumeni syndrome and multiple endocrine neoplasia

116
Q

genes CDKN2A and CDK4 are in this hereditary cancer

A

familial melanoma

117
Q

CDKN2A is a _____________ (tumor suppressor or oncogene)

A

tumor suppressor

118
Q

CDK4 is a _____________ (tumor suppressor or proto-oncogene)

A

proto-oncogene

119
Q

loss of this gene causes loss of p16 activity which eliminates cell cycle regulation

A

CDKN2A

120
Q

CDK4 mutation causes a _____ of function

A

gain

121
Q

mutation in this gene down regulates pRb causing lack of cell cycle control

A

CDK4

122
Q

mutations in these genes can lead to inc risk of melanomas, moles, and pancreatic cancers

A

CDKN2A and CDK4

123
Q

slide 121

A

.

Medical Genetics (15 decks)

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