Test Prep Flashcards by Shasta Sibille

Breast Cancer- Annual Incidence and Hereditary % to % Familial %

255,000 and 12-14% Fam 15-40%

How well did you know this?

Not at all

Perfectly

Breast Cancer- % risk with BRCA mutation, % risk of second breast cancer, and general population risk of 1st and 2nd?

up to 87%, 64%, GP 1st 14.8 2nd 11%

How well did you know this?

Not at all

Perfectly

Ovarian Cancer- Annual incidence and Hereditary % Familial %

22,000 and 24% Familial 4-11%

How well did you know this?

Not at all

Perfectly

Ovarian- % risk with BRCA mutation and % risk with Lynch mutation. General Population % risk

up to 63%, up to 12%, and >1%

How well did you know this?

Not at all

Perfectly

Uterine/Endometrial - Annual incidence and hereditary % Familial %

61,000 and 9% Familial 4%

How well did you know this?

Not at all

Perfectly

Uterine/Endometrial - % Risk with Lynch Mutation and General Population risk?

71% and 1.5%

How well did you know this?

Not at all

Perfectly

Colorectal Cancer- annual incidence and hereditary %

135,000 and 10%

How well did you know this?

Not at all

Perfectly

Colorectal - % risk with Lynch Mutation, General Population % risk, and Second cancer overall and Familial %

82% (myRisk 99% with FAP), GP 3.4%, and 38% Familial 4-20%

How well did you know this?

Not at all

Perfectly

HBOC- Population risk for breast cancer % to % or 1/8 regardless of family history.

12 to 14%

How well did you know this?

Not at all

Perfectly

Breast cancer - median age?

55-65

How well did you know this?

Not at all

Perfectly

HBOC- % chance of ovarian cancer with BRCA 1/2 and % risk of Breast Cancer with BRCA 1/2 mutation?

63% and 87%

How well did you know this?

Not at all

Perfectly

BSO can reduce ovarian cancer by what %? And Breast %

96% and 68%

How well did you know this?

Not at all

Perfectly

Colon/ Lynch Syndrome - Median age? Annual incidences?

General Population late 60s to late 70s. 135,000 per year

How well did you know this?

Not at all

Perfectly

Screen using colonoscopy- what are they looking for?

polyps

How well did you know this?

Not at all

Perfectly

If you have a lynch mutation, polyps can become cancerous in how many years?

1-3 years

How well did you know this?

Not at all

Perfectly

Polyps usually take how many years to become cancerous in general population?

5-10 years

How well did you know this?

Not at all

Perfectly

Individuals with Lynch syndrome have a % chance of developing colorectal cancer? Individual with Lynch syndrome have a % chance of developing stomach cancer?

82% and 13%

How well did you know this?

Not at all

Perfectly

Individuals with Lynch syndrome have a % risk of developing ovarian cancer?

12%

How well did you know this?

Not at all

Perfectly

Individuals with Lynch syndrome have a % risk of developing endometrial. Patient may present with abnormal bleeding.

71%

How well did you know this?

Not at all

Perfectly

Cancer Risk- Hereditary - what is the cause?

genetic

How well did you know this?

Not at all

Perfectly

Cancer Risk- Familial- what is the cause

combination of genetic and environmental

How well did you know this?

Not at all

Perfectly

Cancer Risk - General Population- what is the cause?

Environmental

How well did you know this?

Not at all

Perfectly

What is a germline mutation?

A mutation from the egg or sperm that is found in all cells of your body (myRisk testing) these are inherited.

How well did you know this?

Not at all

Perfectly

What is a somatic mutation?

mutation that first occurred in a particular cell (tumors) These are genetic changes that are acquired (environmental like UV or Chemical exposure) and are not inherited. They are not found in all cells of the body.

How well did you know this?

Not at all

Perfectly

Name the 8 cancers on myRisk - COME-PPBG

Colorectal, Ovarian, Melanoma, Endometrial, Pancreatic, Prostate, Breast, and Gastric

Red Flags- MYR- what is this?

Multiple- combo of cancers in a patient or on the same side of the family. Young- Age <50 in patient or family members. Rare- Rare cancer at any age (ovarian)

What 2 Federal Legislation protect patients?

GINA- prohibits employers and health insurers from discrimination against those with genetic conditions. HIPAA- Protects patient health information.

How should providers handle VUS results?

As though they are negative, and base medical management on the patients personal and family history.

Patient Case- Patient with BRCA 1 mutation in family and the patient test is negative. What is she considered?

A True negative and is at general population risk.

Patient Case- We test a patient and she comes back positive for BRCA 1/2. What age should MRI with contrast begin? What is her % change of developing breast cancer?

25 and up to 87%

BRCA 1/2 mutations are dominant. What % chance of passing the mutation onto offspring?

50%

Foresight Results- What type of result is given?

Positive or nothing (no VUS)

Foresight- How many live births are expected with conditions on the Universal Panel?

1/300

Foresight- How many at risk couples are identified by Universal Panel?

1 in 22 (4.5%)

Foresight - How many at risk couples are identified by Fundamental Plus?

1/60

Foresight Universal Panel - How many conditions are tested for men and women?

men- 175 and women- 176

Foresight - Fundamental Panel - What 3 genes are tested? What type of condition are these disorders?

CF, SMA, Fragile X and Single gene disorders

Foresight- What are most of the conditions on Foresight?

Autosomal Recessive (some are X-linked)

Foresight testing - in the eyes of insurance.. Basic Carrier, Fundamental, and Fundamental plus screening is less than _ conditions? and Expanded Carrier screening is _ or more conditions. Some insurance plans still do not cover ECS.

15 or less and 15 or more

What are X-Linked Conditions? What happens Next?

Women who are Fragile X carrier. Diagnostic testing, no need to test partner for same condition if X-Linked.

Foresight- PGD Preimplantation Genetic Diagnosis. If a couple is at risk for having an affected child, some may opt to do what to prevent passing on condition to their offspring.

in vitro fertilization with PGD.

Foresight - What 4 elements are used for panel design?

Actionability, Severity, Prevalence, and Sensitivity

What 4 elements of Foresight make this "best in the market"?

1. Full exon sequencing (high detection rate) 2. Panel wide deletion calling 3. Real time curation 4. 99% detection rate across all ethnicities.

Foresight collection with what 2 methods?

Blood and Saliva

ACOG recommends all pregnant women to be offered screening for _ and _?

CF and SMA

Fragile X- What are the conditions?

Long face, autistic features (most common inherited form of autism)

Cystic Fibrosis- What are the conditions?

chronic lung and gastric problems. Thick sticky mucous in lungs, frequent infections, pancreas does not function properly.

SMA (Spinal Muscular Atrophy) What are the conditions?

Born typical, and lose motor skills over time, cognitive function is not affected. Most common genetic cause of infant death.

Prequel- What is the chance my baby is health?

PPV- positive predictive value

Prequel- Sample type?

Blood only- need cfDNA from placenta, which is only found in mom's blood.

Prequel- Nuchal Translucency- What trimester is this done? What are they measuring and by what device?

Part of the first trimester screening, ultrasound measurement of the fluid at the back of the baby's neck.

Prequel- Ashkenazi Jewish- Risk level

Originally from Eastern Europe- Higher carrier rate of different conditions

Prequel- Checking the TRF- test for T21, T13, T18. What else needs to be checked?

Check Sex chromosomes and EAA.

Prequel - Confirm Prequel results with what 2 diagnostic tests?

Amino and CVS

What is Fetal Fraction

percentage of cfDNA in a sample that comes from the placenta.

Can NIPS separate mom and baby's DNA?

analyzing a "bucket" of DNA from mom and baby. Then, separating all of the DNA by chromosome and measuring differences between amounts we found and amounts that we would expect. Not looking specifically at which is mom's and which is baby's DNA.

Quad Screen- When is this performed? In the maternal serum how many chemicals to be found in mom's blood? These are different when pregnancies are affected with T18 and T21. Maternal serum is sometimes used as "off-label" to determine health of pregnancies outside of those 2 chromosome conditions. What can we use NIPS for the same purpose.

Second Trimester- 4 chemicals

Positive Prequel results get a PPV - what is this based off?

maternal (mom) age and gestational age

Negative Prequel results get a what type of score?

Residual Risk Score- chance the test is wrong and baby is actually affected.

What is De novo?

new mutation, not inherited, first time it is seen in a family.

Prequel and Foresight are what types of tests?

screening

MLH1, MSH2, MSH6, PMS2, EPCAM - associated with which cancers?

Ovarian, colorectal, Uterine, gastric, pancreatic, prostate

CHEK2

Breast and Colorectal

BRCA 1

Breast, ovarian, pancreatic and prostate

BRCA 2

Breast, Ovarian, Melanoma, Pancreatic and Prostate

PALB2

Breast and Pancreatic

Myriad Complete.. what are the 4 pillars?

Access Education Counseling Results

SNP - test failure %

5.2%

What is the % reduction with a breast mastectomy?

90%

MedPro attendance... who needs to be entered into the system

Anyone with an NPI

Use what in Concur for meals/events?

HCP Meals

What category should never be used in Concur?

Entertainment

Sign in sheets- 1. Any fields optional? 2. Can the sign in sheet be used again? 3. Can you sign in for someone if a signature can’t be obtained?

1. No 2. No 3. Yes with a note that you tried

How do you setup a speaker event? 3 steps

1. Get form from speaker team 2. Get a sign in sheet 3. Use HCP speaker p2p training to link your event

Can you text PHI?

What do you do if you lose your laptop?

Report to supervisor

What makes Myriad’s CF better than any other lab? 2 - items

1. Full Exon Sequencing | 2. Deletion/duplication analysis