Maggie Ward, with the Via Christi Cancer Outreach and Risk Assessment program, discussed cancer genetic testing at the October, 2015, Women's Connection luncheon.
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Cancer: What's your risk?
1. What’s your risk? The ins and
outs of cancer genetic testing.
Maggie Ward
Coordinator – CORA
2. 2
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
3. 3
What is genetic testing?
Ever-changing
Single-site v. Panel testing
BRCA 1/2
Lynch Syndrome
How is it done?
Blood
Saliva
4. 4
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
5. 5
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
6. 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
6
7. Case Study #1
34-year old female, no
personal history of
cancer
Brother – sarcoma
Mother – ovarian
Aunt – breast
Cousin – pancreatic
7
8. 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
8
9. Case study #3
31-year old female,
diagnosed with breast
cancer
No known family
history of cancer
Denovo?
9
10. 10
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
11. 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
11
13. 13
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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Select text and right click, then select Format Text Effects. Then click Shadow on the left-hand side menu. Values are as follows:
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Angle: 45○
Distance: 3 pt