cancer: whats your risk?
TRANSCRIPT
What’s your risk? The ins and outs of cancer genetic testing.
Maggie Ward
Coordinator – CORA
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What is genetic testing?
Identification
Presence of a genetic mutation
Does not mean cancer is present
Increased risk for cancer
Lack of genetic mutation
Mutation no longer present
Does not mean you will never get cancer
Not yet identified
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What is genetic testing?
Ever-changing
Single-site v. Panel testing
BRCA 1/2
Lynch Syndrome
How is it done?
Blood
Saliva
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Not for everyone
1. Specific qualifying criteria
a. Personal and family history
b. Insurance coverage
2. Understanding of what to expect
a. Genetic counseling
b. Willingness for future testing
c. Preparation for the unexpected
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Indications
1. Ovarian Cancer
2. Breast cancer in two individuals on same side
of family
3. Breast, colon or endometrial cancer diagnosis
under the age of 50.
4. Male breast cancer or triple-negative breast
cancer diagnosis
5. Combination of three cancers in the same
side of family
Considerations
Decision is not cut and dry
May or may not tell us:
Personal cancer risk
Family or future off-spring cancer risk
Inability to screen or prevent
No family history is the same
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Case Study #1
34-year old female, no personal history of cancer
Brother – sarcoma
Mother – ovarian
Aunt – breast
Cousin – pancreatic
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Case study #2
Male, 54-years old, no personal history of cancer
Father – colon cancer at 48, deceased at 51
Brother – colon cancer at 50, deceased at 60
Mother – breast cancer at 70, alive & well at 82
Grandmother – breast cancer at 83, deceased at 90
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Case study #3
31-year old female, diagnosed with breast cancer
No known family history of cancer
Denovo?
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Potential results
Positive:
Genetic mutation
present
Increased risk for
other cancers
Future generations
Consideration for
additional screening
and/or prevention
services
Negative:
If known mutation in
the family, was not
passed on
May not yet be
identified
Familial v. Hereditary
Screening &
prevention based on
family history
Potential results
VUS - Variant of Uncertain Significance
Often benign
May be reclassified
Screening/prevention based on family history
Family testing
Family members affected by cancer
Offspring
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What to expect
Detailed pedigree
Consultation
Specimen collection
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Next steps
1. Know your family history
a. Three generations
b. Type of cancer & age diagnosed, when possible
2. Consider your risk
3. Talk to your physician
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QUESTIONS?
Via Christi CORA
Cancer Outreach & Risk
Assessment Program
316.689.5700