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Myriad phase 1 > Cancer Risk Assessment > Flashcards

Cancer Risk Assessment Flashcards

1
Q

Choose the statement below that best describe familial cancer:
A) Occurs by Chance

B)Likely caused by a combination of genetic & environment factors

C)An alteration in a gene which strongly contributes to the development of cancer

A

B. Likely caused by a combination of genetic & environment factors

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2
Q

Overall, ____ % of breast cancer is due to a underlying hereditary cancer syndrome?
A) 9
B) 10
C) 12-14

A

C) 12-14

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3
Q 
Inherited mutations in the BRCA 1/2 genes are associated with an up to \_\_\_\_ % lifetime risk of developing breast cancer?\
A) 12
B) 63
C) 82
D) 87
A

D) 87

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4
Q 
What is the lifetime risk of developing endometrial cancer in women with Lynch Syndrome?
A) up to 12%
B) up to 63%
C) up to 71%
D) up to 87%
A

C) up to 71%

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5
Q 
Which sequencing technology is often referred to as the gold standard method of DNA sequencing?
A) Next Generation Sequencing (NGS)
B) PCR
C) Microarray
D) Sanger
A

D) Sanger

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6
Q

Myriad myRisk gene selection must contribute to the 8 cancers of focus and at least one of the following (select all that apply):
A) Existing society guidelines around mgmt
B) Other labs are now testing for the gene
C) Absolute cancer risk of >5%
D) 2-3 fold increase in cancer risk over general population

A

A) Existing society guidelines around mgmt

C) Absolute cancer risk of >5%

D) 2-3 fold increase in cancer risk over general population

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7
Q 
In a poster presented at CGA in 2013, \_\_\_\_ % patients tested for HBOC also met NCCN criteria for Lynch Syndrome and \_\_\_\_ % of patients tested for Lynch Syndrome met NCCN criteria for HBOC:
A) 10 50
B) 25,75
C) 7,29
D) 15,20
A

C) 7,29

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8
Q

Myriad myRisk Test Report summary of management recommendations are provided ONLY for positive patients.
Treu
False

A

False

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9
Q 
SNP stands for:
A) Single New Polymorphism
B) Small Nucleotide Polymorphism
C) Scottish National Primates
D) Single  Nucleotide Polymorphism
A

D) Single Nucleotide Polymorphism

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10
Q

A single nucleotide polymorphism is a variation of one nucleotide at a single position in the DNA sequence that occurs in greater than ___ % of a certain population?

A) 1%
B) 3%
C) 5%
D) 20%

A

A) 1%

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11
Q

Although Myriad uses the term polymorphism to refer to a benign genetic variation, in the strict definition of the term, not all polymorphisms are benign. True or false?

A

True

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12
Q

SNPs are generally associative of a disease, not causative. True or false?

A

True

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13
Q

A SNP association found in a specific population can be generalized to all populations. True or False.

A

False

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14
Q

an be associated with an increased or decreased risk of developing a certain disease. True or false?

A

True

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15
Q 
In Mavaddat study discussed in this module, 77 breast cancer associated SNP’s were evaluated to construct a scoring system referred to as the:
Lifetime Risk
Breast Cancer Risk
Polygenic Risk Score
Mavaddat Score
A

Polygenic Risk Score

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16
Q

The findings from the Mavaddat study showed that the use of SNP analysis to generate a Polygenic Risk Score could help stratify breast cancer risk only in patients with a family history of breast cancer. True or False.

A

False

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17
Q

riskScore is a breast cancer risk prediction tool that provides women who are unaffected with breast cancer a remaining lifetime and 5-year calculation of their breast cancer risk. True or false?

A

True

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18
Q

riskScore is based on an analysis of:
A)Genetic Markers & Family History of cancer

B) Personal clinical risk factors & fam history of cancer

C) Genetic markers, personal clinical risk factors & family history of cancer

D) Claus & genetic markers

A

C) Genetic markers, personal clinical risk factors & family history of cancer

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19
Q

Using the data of over 11,000 patients training study, Myriad was able to generate a single risk estimate using over ________ of the most useful genetic markers showing a consistent association with breast cancer risk. This set of genetic markers and the formula for estimating risk was validated in a study of over ________ could highly predict a breast cancer risk in a high risk patient population.

50, 10000
70, 11000
75, 15000
80, 17000

A

80, 17000

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20
Q

The Hughes study showed that the genetic markers used in the residual risk score (RRS) were highly predictive of breast cancer risk in women with and without a family history of breast cancer. True or false?

A

True

False

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21
Q

In order to receive a riskScore, a women must meet the following criteria:
A) Be under age 85 of soley european ancestry
B) Have no personal history of breast cancer

C) have no personal history of LCIS, Atypical Hyperplasia, or Hyperplasia, or a breast biopsy w/unkown results

D) Have no know breast cancer related gene mutation or any blood relatives w/a breast -cancer related gene mutation

E) All of the above

A

E) All of the above

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22
Q

Patients who have tested positive for a non-breast cancer-related gene mutation such as MLH1 are eligible to receive a riskScore. True or False.

A

True

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23
Q

A __________ will appear when the patients remaining lifetime risk is at or above 20%.
Red +
Green -
Orange asterisk

A

Orange asterisk

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24
Q

Medical management for patients who have both a riskScore and a Tyrer-Cuzick risk estimate of 20% or higher will be based on Tyrer-Cuzick True or false?

A

True

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25
Q

Although NCCN and the ACS do not currently provide specific medical management guidelines based on riskScore or other polygenic tests, a riskScore of 20% or higher warrants consideration of medical management. True or false?

A

True

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26
Q 
Which risk model is replacing Claus as the tool myRisk uses to assess a woman's risk of breast cancer based on family history and clinical risk factors?
Gail
BRCAPRO
Tyrer Cuzick
BOADICEA
A

Tyrer Cuzick

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27
Q 
What additional information needs to be collected on the TRF in order to report a Tyrer-Cuzick risk estimate?
Height/Weight
Age of 1st Menstrual Period
Menopausal Status
Parity & Age of live 1st birth
Breast Biopsy history
All of the Above
A

All of the Above

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28
Q

What happens if the Breast Cancer Risk Model information is incomplete?
A) If certain information required to run Tyrer-Cuzick is not provided on the TRF, the model will substitute avg. pop data
B) If certain information required to run Tyrer-Cuzick is not provided on the TRF, a risk estimate will not be reported.
C) If certain information required to run Tyrer-Cuzick is not provided on the TRF, Claus will be reported instead

A

A) If certain information required to run Tyrer-Cuzick is not provided on the TRF, the model will substitute avg. pop data

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29
Q

The Breast Cancer Risk Model information must be completed for:
A) Women who have never been diagnosed w/breast cancer
B) Women w/ breast cancer
C) women who have survived breast cancer
D) Men

A

A) Women who have never been diagnosed w/breast cancer

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30
Q

In addition to cancer family history, Tyrer-Cuzick considers hormonal and pathologic risk factors in its risk estimate True or false?

A

True

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31
Q

Tyrer-Cuzick incorporates BRCA1/2 genetic results into its risk calculation True or false?

A

True

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32
Q

Tyrer-Cuzick has been shown in some independent studies to be the most consistently accurate breast cancer risk model True or false?

A

True

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33
Q

Tyrer-Cuzick considers cancer information for affected and unaffected relatives in its risk estimate True or false?

A

True

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34
Q

How will the Tyrer-Cuzick risk estimate be reported on the MMT?
A) As a lifetime risk
B) As a remaining lifetime risk
C) As a remaining lifetime risk & a 5-yr risk

A

C) As a remaining lifetime risk & a 5-yr risk

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35
Q

NCCN recommends the consideration of MRI in addition to mammogram for women with >20% lifetime risk of breast cancer as defined by models that are largely dependent on family history. True or false?

A

True

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36
Q

The myRisk Management Tool will provide medical management recommendations based on remaining lifetime risk. True or false?

A

True

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37
Q

A woman who has reported a relative that has been diagnosed with a breast cancer related gene mutation will receive a Tyrer-Cuzick risk estimate?

A

False

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38
Q

Majority of the genes on myRisk have established NCCN or consensus management guidelines

A

True

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39
Q 
Research suggests that Myriad provides a definitive results for \_\_\_\_ % of variants that would have been classified a VUS other labs.
5%
10%
45%
90%
A

45%

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40
Q 
Approximately, what percent of eligible women who test negative on myRisk will have a riskScore > 20%?
25%
33%
50%
66%
A

33%

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41
Q

ACOG affirms OBGYN’s are fully trained and qualified to counsel patients and order genetic tests
T/F

A

True

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42
Q

Providers are ultimately responsible for which labs they choose to use for hereditary cancer testing
T/F

A

True

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43
Q 
Approximately, \_\_\_\_ % of patients pay $0
25
33
75
100
A

75

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44
Q

Providers can complete a test request form online and then print it off to place inside the kit using the following:
A) Hereditary Cancer Quiz
B) MyriadPro
C) Google

A

B) MyriadPro

45
Q 
The specificity for Down Syndrome on the Prequel Prenatal Screen is:
99.9 %
89%
99.8%
95%
A

99.8%

46
Q

Positive Predictive Value (PPV) increases with maternal age.

T/F

A

True

47
Q

Sensitivity and specificity are influenced by the population tested.
T/F

A

False

48
Q 
The sensitivity for Down syndrome on the Prequel Prenatal Screen is:
>97%
>98%
>99%
varies based on the peopulation studied
A

> 99%

49
Q 
What statistical value answers the following question: What is the chance that a person with a positive test truly has the disease?
A) Sensitivity
B) Specificity
C) Positive predictive value
D) Negative predictive value
A

c) Positive predictive value

50
Q 
When developing a screening test which of the following is not indicated:
A) Used for gen. pop
B) want the specificity
C) Non-invasive
D) Willing to have some
A

B) want the specificity

51
Q

DNA replication is very accurate with less than a 1 in 100M error rate
T/F

A

True

52
Q

Positive and negative predictive values are influenced by the prevalence of disease in the population that is being tested.
T/F

A

True

53
Q

Risks for trisomy 21, trisomy 18 and trisomy 13 all increase with decreased gestational age.
T/F

A

True

54
Q

Accuracy of a test: The two ways a lab gets it wrong are:
TP, TN
FP, FN

A

FP, FN

55
Q 
What is the lifetime risk of developing endometrial cancer in women with Lynch Syndrome?
up to 12%
Up to 63%
Up to 71%
Up to 87%
A

Up to 71%

56
Q 
What is the lifetime risk of developing endometrial cancer in women with Lynch Syndrome?
Up to 12%
Up to 63%
Up to 71%
Up to 87%
A

Up to 71%

57
Q

In a female BRCA1 positive patient, MRI’s should begin at:
20
25
30

A

25

58
Q 
Bilateral Salpingo-Oophorectomy has been shown to reduce an ovarian cancer risk in a BRCA positive patient by as much as:
63%
75%
96%
100%
A

96%

59
Q 
Colonoscopy can reduce colon cancer risk by \_\_\_\_ % and overall mortality by \_\_\_\_ %
20,30
25,50
50,65
71,82
A

50,65

60
Q

In a patient with Lynch Syndrome, adenoma to cancer progression can take:
1 to 3 years
5 to 10
unkown

A

1 to 3 years

61
Q

Clinically, patients with a VUS are managed as a negative.

t/f

A

True

62
Q

Myriad’s gene selection process includes all of the following EXCEPT:
A) Absolute cancer risk >5% of higher
B) 2 to 3 fold increase in cancer risk over general population
C)Existing society guideline around mgmt
D)Inclusion of a gene by our competitors

A

D)Inclusion of a gene by our competitors

63
Q

Providers are ultimately responsible for which labs they choose to use for hereditary cancer testing
T/F

A

True

64
Q

Which of the following is the BEST resource for our providers to help with their clinical knowledge and test interpretation?
SAM
AM
RMS

A

RMS

65
Q

True or False : Patients often self-refer to IVF providers and select a practitioner based on their reputation and success rates.

A

True

66
Q

True or False : Within an IVF Office, you may find a Reproductive Endocrinologist, an Embryologist, and a Donor Bank/Donor Coordinator.

A

True

67
Q

True or False : An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes.

A

True

68
Q

True or False : All of our tests utilize next-generation sequencing technology.

A

True

69
Q

True or False : In the case of an autosomal dominant condition, an individual must inherit two separate mutations to show symptoms of that condition.

A

False

70
Q

True or False : In the case of an X-linked condition, an individual must inherit at least one mutation on an autosome to show symptoms of that condition.

A

False

71
Q

True or False : Screening tests can be used to identify individuals out of the general population that may be at increased risk for a particular condition.

A

True

72
Q

True or False : Diagnostic tests cannot be used to identify or rule out the presence of a particular condition.

A

False

73
Q

True or False : The “New Ob Visit” is an excellent opportunity for providers to discuss expanded carrier screening and hereditary cancer screening with their patients.

A

False

74
Q

True or False : The “Well Woman Visit” is an excellent opportunity for providers to discuss expanded carrier screening and non-invasive prenatal screening with their patients.

A

False

75
Q

True or False : You will often find genetic counselors working within Maternal Fetal Medicine practices.

A

True

76
Q

True or False : Ob-Gyns specialize in managing high risk pregnancies such as those with ultrasound abnormalities, placental and growth insufficiency, and mothers with diabetes or high blood pressure.

A

False

77
Q

True or False : MFM providers will often discuss screening tests such as amniocentesis and chorionic villus sampling with their patients.

A

False

78
Q

True or False : Expanded carrier screening, ultrasound, and screening for aneuploidy may be performed either by the Ob-Gyn provider or the MFM provider.

A

True

79
Q

True or False : An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes.

A

True

80
Q

True or False : All of our testing is completed via next generation sequencing.

A

True

81
Q

True or False : In the case of an autosomal dominant condition, an individual must inherit two separate mutations to show symptoms of that condition.

A

False

82
Q

True or False : In the case of an X-linked condition, an individual must inherit at least one mutation on an autosome to show symptoms of that condition.

A

False

83
Q

True or False : Screening tests can be used to identify individuals out of the general population that may be at increased risk for a particular condition.

A

True

84
Q

True or False : Diagnostic tests cannot be used to identify or rule out the presence of a particular condition.

A

False

85
Q

True or False : The “New Ob Visit” is an excellent opportunity for providers to discuss expanded carrier screening and hereditary cancer screening with their patients.

A

false

86
Q

True or False : The “Well Woman Visit” is an excellent opportunity for providers to discuss expanded carrier screening and non-invasive prenatal screening with their patients.

A

False

87
Q

True or False : You will often find genetic counselors working within Maternal Fetal Medicine practices.

A

True

88
Q

True or False : Ob-Gyns specialize in managing high risk pregnancies such as those with ultrasound abnormalities, placental and growth insufficiency, and mothers with diabetes or high blood pressure.

A

False

89
Q

True or False : MFM providers will often discuss screening tests such as amniocentesis and chorionic villus sampling with their patients.

A

False

90
Q

True or False : Expanded carrier screening, ultrasound, and screening for aneuploidy may be performed either by the Ob-Gyn provider or the MFM provider.

A

True

91
Q

True or False : Patients often self-refer to IVF providers and select a practitioner based on their reputation and success rates.

A

True

92
Q

True or False : Within an IVF Office, you may find a Reproductive Endocrinologist, an Embryologist, and a Donor Bank/Donor Coordinator.

A

True

93
Q

True or False : The purpose of a screening test is to help you identify a target population, within a larger population.

A

True

94
Q

True or False : False Positive and False Negative results are possible, and can be expected, with screening tests.

A

True

95
Q

True or False : Sensitivity is the percentage of patients without the disease that receive a negative result. (#True Negative / #Unaffected)

A

False

96
Q

True or False : Positive predictive value (PPV) is the chance that a positive result is a true positive.

A

True

97
Q

True or False : Screening for aneuploidy is offered during pregnancy because diagnostic testing can carry a small risk for pregnancy loss.

A

True

98
Q

True or False : Diagnostic tests allow for the production of a karyotype to determine if the correct number of chromosomes is present in a fetus.

A

True

99
Q

True or False : Ultrasound markers were added to maternal serum screening in 2010 to increase the detection rates.

A

False

1990’s-2000’s

100
Q

True or False : Maternal serum screening involves the analysis of particular hormone or chemical levels in a pregnant mother’s blood to determine the risk for specific chromosome conditions.

A

True

101
Q

True or False : A quad screen involves testing for AFP, estriol, inhibinA, and measuring the nuchal translucency.

A

False

AFP, hCG, Estriol, inhibin

102
Q

True or False : Integrated Screening, Sequential Screening, and Contingent Screening are all variations on tests which combine blood work and ultrasound measurements taken in the second and third trimesters of pregnancy.

A

False

103
Q

True or False : Cell-free DNA screening allows for the separation and analysis of fetal DNA fragments in a pregnant mother’s blood.

A

False

104
Q

True or False : Cell-free DNA screening can be performed any time after 10 weeks gestation.

A

True

105
Q

True or False : First trimester screening will provide information on open neural tube defects, such as spina bifida.

A

False

106
Q

True or False : All forms of maternal serum screening provide information on sex chromosome aneuploidies, such as Turner syndrome.

A

False

107
Q

True or False : Maternal serum screening is known to have a false positive rate of approximately 5%.

A

True

108
Q

True or False : Some providers continue to use maternal serum screening and other forms of testing because they believe in the value of “off label” information provided by these options.

A

True

109
Q

True or False : Most providers will choose one screening modality and use that one exclusively.

A

False

Myriad phase 1 (4 decks)

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