Cancer Risk Assessment Flashcards by Hannah Scott

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

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

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

C) 12-14

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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

D) 87

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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%

C) up to 71%

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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

D) Sanger

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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) 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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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

C) 7,29

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

False

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

D) Single Nucleotide Polymorphism

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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) 1%

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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?

True

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

True

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

False

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

True

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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

Polygenic Risk Score

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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.

False

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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?

True

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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

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

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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

80, 17000

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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?

True

False

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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

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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.

True

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

Orange asterisk

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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?

True

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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?

True

``` 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 ```

Tyrer Cuzick

``` 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 ```

All of the Above

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

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) Women who have never been diagnosed w/breast cancer

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

True

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

True

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

True

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

True

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

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

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?

True

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

True

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?

False

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

True

``` Research suggests that Myriad provides a definitive results for ____ % of variants that would have been classified a VUS other labs. 5% 10% 45% 90% ```

45%

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

33%

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

True

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

True

``` Approximately, ____ % of patients pay $0 25 33 75 100 ```

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

B) MyriadPro

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

99.8%

Positive Predictive Value (PPV) increases with maternal age. | T/F

True

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

False

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

>99%

``` 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 ```

c) Positive predictive value

``` 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 ```

B) want the specificity

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

True

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

True

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

True

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

FP, FN

``` 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% ```

Up to 71%

``` 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% ```

Up to 71%

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

``` 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% ```

96%

``` Colonoscopy can reduce colon cancer risk by ____ % and overall mortality by ____ % 20,30 25,50 50,65 71,82 ```

50,65

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

1 to 3 years

Clinically, patients with a VUS are managed as a negative. | t/f

True

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

D)Inclusion of a gene by our competitors

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

True

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

RMS

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

True

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

True

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

True

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

True

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

False

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.

False

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.

True

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

False

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.

False

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.

False

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

True

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.

False

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

False

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

True

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

True

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

True

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

False

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.

False

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.

True

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

False

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.

false

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.

False

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

True

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.

False

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

False

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

True

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

True

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

True

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

True

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

True

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

False

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

True

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

True

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.

True

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

False | 1990's-2000's

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.

True

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

False | AFP, hCG, Estriol, inhibin

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.

False

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

False

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

True

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

False

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

False

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

True

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.

True

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

False