Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

EXMD 504 > Lecture 5: boring one > Flashcards

Lecture 5: boring one Flashcards

1
Q

what is the first hereditary cancer susceptibility gene and the first tumor supressor gene discovered and when was it discovered

A

it is the RB1 gene and it was in 1986

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is leukocoria

A

a white reflexion in the pupil

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what us strabismis

A

eye misalignment due to tumor growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what are the 2 presenting signs of retinoblastoma

A

-leukocoria
-strabismus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is usually the age of diagnosis of retinoblastoma

A

5ys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

true or false: a retinoblastoma is always unilateral anbd multifocal

A

false: it could be unilateral or bi lateral aka one or 2 eyes
-it could be unifocal or multifocal aka 1 foci or multiple foci of tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is a retinoblastoma

A

a malignant tumor of the embryonic neural retina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

retinoblastoma cases occurs in…. and …. context

A

-familial and sporadic contect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is a familial context

A

familial disease is consistent with autosomal dominant code of transmission of a highly penetrant trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what does a sporadic disease mean

A

np family history

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what does a multigenerational trait

A

it is a trait that is transmitted through the same branch of the family

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what does penetrance mean

A

often describes the likelihood or the lifetime probability of devloping cancer in risk allele carriers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

who had discovered the two hit hypothesis and when

A

alfred knudson in 1971

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is the name of the hypothesis that was proposed to explain the development of both familial and sporadic cases of retinoblastoma and disease presentation in these conrexts

A

the two hit hypothesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what does the revised 2 hit hypothesis include

A

it incorporated the general theory of carcinogenesis involving putitative tumor supressor genes (1976)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is the age of diagnosis of familial rb

A

12 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the age of diagnosis of sporadic rb

A

7-10 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what are the characteristics of familial rb

A

bilateral and multifocal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what are the characteristics of sporadic rb

A

unilateral and uni focal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

truie or false: familial and sporadic form of rn is caused by the same gene

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how is the rb1 gene transmitted

A

autosomal dominant mode of inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what does rb1 gene encode for

A

a tumor supressor gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

can you inherit a mutant rb allele

A

yeah
you can inherit a loff of function risk rb allele from carrier parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

do you need to get the second hit in order to get rb

A

yeah

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

loss of function in rb in tumours is due to what

A

mutational inactivation and allele loss`

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

loss of pRB function in tumor cells results in what?

A

in loss of cell cycle regulation leading to unprogrammed cell division

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

pRb is regulated by what

A

phosphorylation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what does unphosphorylated Rb do

A

it physically interacts with TF an impedes their functions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

could genetic testing reveal that a seemingly sporadic case was hereditary

A

you can because although rb has a high penetrance it is possible that the parents do not get cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

which cancer predisposing traits can account for features in disease presentation

A

-young age of onset
-bilateral disease
-number of tumour foci
-familial history of cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

cancer predisposing genes encode for what?

A

proteins that behave of tumour supressor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what can serve as mediacal biomarkers pedictive of rb risk

A

cancer predisposing gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

when were BRCA1 and BRCA2 found and by using what

A

1994 and 1995
genetic analyses of breast cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

what is a germline variant

A

-a gene change in a reproductive cell aka sperm or egg that becomes incorporated in the dna of every cell of the kiddo
-passed from parent to offspring aka hereditary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is a somatic mutationb

A

-al alteration in dna that occurs after conception and is not present within ther germline
-can occur in any cells in the body except the germ cells and is not passed to the kids
-can cause cancer or other disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what is a pathogenic mutation

A

directly contributes ti the development of a disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

what is a likely pathogenic pathogen

A

very likely to contribute to the development of a disease but need more scientific evidence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

what is a benign varuianbt

A

does not cause disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

the term variant is increasingly being used in place of which term

A

mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

true or false: RB1 is a very rare allele

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

cowden disease can cause what

A

breast cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

ataxia telangi smth can cause what

A

breast cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

features of hereditary cancer often include what?

A

-multiple primary tumors in the same or different organs
-bilateral primary tumors in paired organs
-multifocal tumors in a single organ
-younger than usual age at cancer diagnosis
-family history of cancer; either same or specific cancer types and often autosomal dominant mode of inheritance
-tumors with rare histology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

true or false: breast cancer is often multigenerational

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

true or false: breast cancer is often bilateral

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

BrCa Risk – BRCA1 PV carriers:

A

50-80% - lifetime (80 yrs)
15-30% - age 50 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

populztion brca risk

A

11% - lifetime (80 yrs)
2% - age 50 yrs
Mean age Dx = 56 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

true or fakse: RB1 is dominant

A

yeah it is

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

cancer predisposing genes are more likely associated with what?

A

the genetic transmission of an autosomal dominant trait

50
Q

true or false: ATM is recessive

A

true

51
Q

what does atm cause

A

leukemias

52
Q

BRCA1 and 2 are dominant or recessive

A

they are recessive

53
Q

what type of cancer does BRCA1 abnd BRCA2 cause

A

breast and ovary cancer

54
Q

how many gene are autosomal dominant

A

65

55
Q

homany genes are autosomal recessive

A

28

56
Q

how many genes are x linked

A

4

57
Q

how many genes are y linked

A

1

58
Q

autosomal recessive characteristics

A

-heterozygous carriers may express other manifestations of the disease
-carriers are biallelic for mutations
-at risk alleles are inherited fromn both parents

59
Q

are cancer predisposing genes always tomor supressors

A

no

60
Q

what is the difference between tumor supressor genes and oncogenes

A

-tumor supressor gemes: mutations results in loss or reduced function
-oncogene: mutations result in activatuon of encoded protein

61
Q

true or false: cancer predisposing genes inactivated by loss of function variants are more common than those genes modified by gain of fucntion variants

A

true
aka usually the second hit is the inactivation of wt allele inorder for cancer to be like hey girlie

62
Q

give examples of tumor supressors

A

-p53
-pRB
-BRCA1-2

63
Q

what is the mmr pathway and which gene uses it

A

-mismatch repair dna repair pathway affecting single base mismatches or short insertions/deletions
-MSH2 and 6, MLH1

64
Q

what is the CIN pathway and which genes are using it

A

chromosomal(genomic) instability aka deletions or duplicatins affectingwhole or parts of the chromosomes
-brca1-2

65
Q

what is brca1 involved in

A

-homologous recombination reoair
-repliucation fork repair
-dna damage checkpoiunt control
-tumors from pathogenic brca1 variants carriers display extensive genetic damage (CIN)

66
Q

name tumor supressor genes involved in the apc pathway

A

-apc
-axin2
cdh1
-gpc3

67
Q

the apc pathway affects what

A

-cell processes including:
-cell migration and adhesion
-transcriptional activation
-apoptosis

68
Q

RET encodes for what

A

-receptor tyrosine kinase
-cell surface that transduces signals for cell growth and differenciation
-rendered constitutively active by cancer predisposing mutation

69
Q

cancer predisposing hgenes have been associated with a variety of molecular pathways found implicated in the developmemnt of which tyoe of disease

A

sporadic disease

70
Q

which tyoe of variuants have been recently founbd in rare oediatric cancers

A

germline variants in dicer (mrna processing)

71
Q

how many genes are found in biwth cancer genes with somatic driver mutations and cancer predisposition with germline mutations

A

49

72
Q

which gene is the most somaticallu mutated gene in epithelial cancers

A

tp53

73
Q

which gene is implicated in li fraunmeni syndrome caner families

A

tp53

74
Q

true or false: tp53 has asn autosomal dominant mode of inheritabce

A

teah

75
Q

true or false: li fraumeni syndrome cancer fam is common

A

false it is rare 1/5000 are heterozygoys carriers of tp53

76
Q

true or false: tp53 can affect breast cancer

A

yeah

77
Q

what is genetic heterogeneity of hereditary cancer

A

a phenomenin in which a single phenotyoe or disorder bay be associated with a germline risk (pathogenic) allele in any one of a multiple number of genes

78
Q

true ot false: rb is monogenic

A

true

79
Q

true or false: titty cancer is heterogenic

A

yeah
brca1 and brca2

80
Q

what are the roles of brca1-2

A

-homologous recombination repair
-replication fork repair
-dna damage checkpoint control

81
Q

hereditary breast cancer is a genetically…. disease asssociated with …. mode of transmission of……. in. avariety of rare clinically defined cancer syndromes

A

heterogenous
-autosomal dominant mode of transmission
-of loss of funstion variants

82
Q

can li fraumeni cause sarcomas

A

yeah

83
Q

what does cowdens cause and which gene is affected

A

titty and thyroid cancer
pten

84
Q

true or false; there is breast ovarian cancer

A

yeah

85
Q

what does peutz jeghers cause and which gene

A

titty and it is stk11

86
Q

what does hereditary diffuse gastric cancer cause and which gene does it affects

A

-diffuse gastric cancer and titty
-cdh1

87
Q

true or false: colon cancer is homogenic

A

false it is heterogenic

88
Q

what is the variable penetrance

A

probability of devloping cancer in carriers of pathogenic variants in cancer predisposing genes during their lives

89
Q

what is the % of carriers that have rb and get rb cancer

A

95%

90
Q

true or false: breast cancer risks depemnds on the oenetrance of the genes

A

true

91
Q

what is the lifetime risk of not carriers to get titty cabcer

A

10%

92
Q

what is variable expressivity

A

a cancer predisposing gene that also confers increased risk to different cancer type

93
Q

carriers of pathogenic variuants of brca1-2 are also at significantly increased to which cancer

A

ovarian cancer

94
Q

cancer familt phenotype of ovarian cancer

A

-breast cancer syndrome family with ovarian cancer
-autosomal dominant mode of inheritance of genetic trait

95
Q

OvCa Risk in BRCA1 PV or
BRCA2 PV carriers:

A

15-60% - lifetime (80 yrs)
<2% - age 50 yrs

96
Q

Population OvCa risk:

A

1.2% - lifetime (80 yrs)
&laquo_space;1% - 50 yrs
Mean age Dx = 60 yrs

97
Q

true. orfalse: penetrance is significantlyt higher for female ovarian cancer than boobie cancer

A

false boobie cancer is more penetrant

98
Q

Male carriers of pathogenic variants in B…… are a increased risk for breast cancer and penetrance is significantly ….. than for female carrier

A

RCA1 or BRCA2 (risk alleles)
lower

99
Q

BrCa risk for males:

A

BRCA1 PV carriers:
1-2% - lifetime risk (80 yrs)
BRCA2 PV carriers:
6% lifetime risk (80 yrs)

100
Q

Population BrCa risk for males:

A

<1% - lifetime (80 yrs)
Mean age Dx > 55 yrs

101
Q

what is the magnitude absolute risk for brca1-2 carriers for prostate

A

we dunno

102
Q

what is the magnitude absolute risk for brca1-2 carriers for pancreas

A

less than 10%

103
Q

non retinal tumors of retinoblastoma patients: bilateral %

A

36%

104
Q

non retinal tumors of retinoblastoma patients: unilateral %

A

5.69&

105
Q

Carriers of RB1 PV (risk alleles) are at significantly increased risk for other cancer types like which ones

A

-lung
-all neoplasms

106
Q

genotype: phenotype corrolation def

A

A statistical relationship between genotype (risk variant) and phenotype (cancer or type of cancer) predictive of a physical trait in carriers of pathogenic variants in cancer predisposing genes

107
Q

Most germline RB1 PV confer high risk (….) for developing retinoblastoma

A

> 95%

108
Q

rb: …. % result in premature termination codon

A

85-95%

109
Q

Most germline RB1 PV confer high risk (>95%) for developing retinoblastoma give them lil facts

A
  • Transcripts cleared by nonsense mediated decay (NMD)
  • Often found in bilateral disease
110
Q

what is the penetrance of unilateral rb

A

30%

111
Q

Pathogenic variants in ….. region of BRCA2 is associated with conferring
higher risk for ovarian cancer

A

“OCCR”

112
Q

Frequency of carriers of pathogenic variants in high-risk cancer predisposing genes accounts of how many cancers

A

3%

113
Q

Estimates based on research often derived in populations in high resource areas as
defined by:

A

ü World Bank income categories
ü health care system robustness
ü status of universal health
coverage and/or
ü research capabilities

114
Q

which is one of the most rare cancer and give lil deets

A

-Thyroid
-Multiple Endocrine
Neoplasia
1/500,000
RET
>92%

115
Q

Fewer than…. of female breast cancer cases carry a pathogenic variant in a known high risk cancer predisposing gene

A

15%
-10% for brca1

116
Q

Chance of carrying a pathogenic variant in BRCA1 or BRCA2 depends on
personal and family history of cancer and ancestry: true. orfalse

A

true

117
Q

which people are more likely to get cabncers

A

ashkenazi jews and french canadians and hispanics

118
Q

80% of BRCA1/BRCA2 PV carriers in the French Canadian cancer families from Quebec harbor recurring pathogenic variants due to …..

A

common ancestors

119
Q

what is the candidate gene approach

A

Proteins that interact in the same pathways as known genes are obvious candidates to pursue in BRCA1/BRCA2 variant-negative cancer families

120
Q

true. orfalse: Distribution of other pathogenic breast and ovarian cancer
variants in French Canadian cancer families is the same between the two camcer

A

FALSE THEY HAVE DIFFERENT RATIOS

121
Q
A

EXMD 504 (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions