Eric Fowler, MS, CGC, Certified/Licensed Genetic Counselor, manager of Genetic Counseling at Cancer Treatment Centers of America(r) presents "Know Your Risk: Understanding Genetics and Breast Cancer." The webinar presentation addresses genetics and genetic counseling basics, factors that impact breast cancer risk, family history risk, hereditary breast cancer and the pros and cons of genetic testing.

1. Know Your Risk:
Understanding Genetics
and Breast Cancer
Eric Fowler, MS, C/LGC
Certified/Licensed Genetic Counselor
Cancer Treatment Centers of America®
© 2013 Rising Tide

2. Welcome & Introduction
Eric Fowler, MS, C/LGC
Certified/Licensed Genetic Counselor, Manager of Genetic Counseling
Cancer Treatment Centers of America®
© 2013 Rising Tide

3. Know Your Risk:
Understanding Genetics
and Breast Cancer
Eric Fowler, MS, C/LGC
Certified/Licensed Genetic Counselor
Cancer Treatment Centers of America®
© 2013 Rising Tide

4. Topics for Discussion
• Genetic Counseling
• Factors Impacting Breast
Cancer Risks
• Family History and Breast
Cancer Risks
• General Genetics Information
• Hereditary Breast Cancer
• Genetic Testing
• Case Example
• Summary
© 2013 Rising Tide

5. What is Genetic Counseling?
© 2013 Rising Tide

6. Genetic Counseling - Definition
• Genetic counseling is the process of helping people
understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease.
Source: National Society of Genetic Counselors, 2005
© 2013 Rising Tide

7. Genetic Counseling - Process
• Interpretation of family and medical histories to assess
the chance of disease occurrence or recurrence.
• Education about inheritance, testing, management,
prevention, resources and research.
• Counseling to promote informed choices and adaptation
to the risk or condition.
Source: National Society of Genetic Counselors, 2005
© 2013 Rising Tide

8. What factors impact breast cancer risks?
© 2013 Rising Tide

9. Family History
Lifestyle
Breast
Cancer
Risk
Environment
Genes
© 2013 Rising Tide

10. Factors Impacting Breast Cancer Risks
• Age
• Benign breast disease
• Family history
• Dietary factors
• Reproductive factors
• Lifestyle
• Hormone replacement
therapy
© 2013 Rising Tide

11. Family History and Breast Cancer Risks
© 2013 Rising Tide

12. Breast Cancer Risks Increase When:
• Closer relatives are diagnosed with breast cancer.
• Relatives are younger when diagnosed with breast
cancer.
• Multiple relatives have breast cancer and or ovarian
cancer.
© 2013 Rising Tide

13. Impact of Family History on Breast Cancer
Risks*
• Grandmother with breast cancer: risk increased by a
factor of 1.27 times average risk.
• Mother, father or sister with breast cancer: risk increased
by a factor of 1.73-1.8 times average risk.
• Two first-degree relatives with breast cancer: risk
increased by a factor of 2.8 times average risk.
Study adjusted for age, age 1st period, region, socioeconomic status, number of children, and age at first birth
*these risk comparisons are estimates and not applicable to any one person – other factors influence these risks, and
risks are underestimated if there is a hereditary cancer risk in a family
Bevier M et al. Breast Cancer Res Treat 2012 Apr;132(2):723-8
© 2013 Rising Tide

14. General Genetics Information
© 2013 Rising Tide

15. What is DNA?
• DNA, or deoxyribonucleic acid, is the genetic material in
humans and almost all other organisms.
• DNA contains genetic instructions and is the blueprint for
how our bodies develop, appear, and function.
Source: http://ghr.nlm.nih.gov/
© 2013 Rising Tide

16. Chromosomes, DNA and Genes
© 2013 Rising Tide

17. What are mutations?
• Mutations are alterations, or changes, in genes.
• Mutations in certain genes are associated with cancer.
• Mutations can be inherited from a parent (germline) or
acquired (somatic) after conception.
Source: http://ghr.nlm.nih.gov
© 2013 Rising Tide

18. Cancer Arises from Gene Mutations
© 2013 Rising Tide

19. All cancer is genetic,
but
most cancer is NOT inherited.
© 2013 Rising Tide

20. Hereditary Breast Cancer
© 2013 Rising Tide

21. How much breast and ovarian cancer is
hereditary?
© 2013 Rising Tide

22. Personal and Family History Clues that
Increase the Chances of a BRCA Mutation
• Early-onset breast cancer (under age 50)
• Multiple relatives with early onset breast cancer
• Ovarian cancer (with family history of breast or ovarian
cancer)
• Breast and ovarian cancer in the same woman
• Bilateral breast cancer
• Male breast cancer
• Ashkenazi Jewish heritage
© 2013 Rising Tide

23. Hereditary Breast Ovarian Syndrome (HBOC)
•
•
•
•
BRCA1 and BRCA2 – DNA repair genes
About 50% of hereditary breast cancer
About 90% of hereditary breast / ovarian cancer
Incidence is approximately 1/500 – 1/800 among those
of European, African and Asian descent
• Incidence is 1/40 among Ashkenazi Jews (Jews of
Eastern European descent)
© 2013 Rising Tide

24. BRCA1-Associated Cancers: Lifetime Risk
Breast cancer 56%-85%
(often early age at onset)
Second primary breast cancer 40%-65%
Ovarian cancer 30%-45%
Male breast and
prostate cancer
Increased risk of other cancers - pancreatic
Adapted from ASCO Genetics Slide Set 2007
© 2013 Rising Tide

25. BRCA2-Associated Cancers: Lifetime Risk
breast cancer
(56%-85%)
male breast cancer
(6-8%)
ovarian cancer
(10%-30%)
Increased risk of prostate, pancreatic
cancers and possibly others
Adapted from ASCO Genetics Slide Set 2007
© 2013 Rising Tide

26. Clinical Management of BRCA1 and BRCA
Mutation-Positive Patients
© 2013 Rising Tide

27. Li Fraumeni Syndrome
• Caused by mutations in the p53 gene
• ~50% risk for breast cancer by age 60
• >90% risk for cancer by age 50 with childhood cancers
observed
• Increased risks for cancers of the breast, brain, blood
(leukemia), connective tissue (sarcoma) and others
• 5-7% of women with breast cancer at or under age 35
who test BRCA1/2 negative have p53 mutations
© 2013 Rising Tide

28. Cowden Syndrome
• Caused by mutations in the PTEN gene
• Lifetime risk for breast cancer up to 85%
• Increased risks for cancers of the breast, thyroid, uterus,
kidneys and others
• Includes non-malignant features such as larger head
circumference, and benign growths in the breast, uterus,
thyroid, mouth and skin
© 2013 Rising Tide

29. Genetic Testing
© 2013 Rising Tide

30. Genetic Testing Basics
• Genetic testing is usually performed on blood, saliva or
mouthwash samples.
• Most insurance companies cover the cost of genetic
testing if established criteria are met.
• Test results take 2-4 weeks up to 4 months to be
reported.
• Results can be inconclusive – meaning a genetic
alteration of unknown significance is found.
© 2013 Rising Tide

31. Benefits of Genetic Testing
• Potential for a more accurate picture of cancer risk
• Decision making
–
–
–
–
Lifestyle
Chemoprevention
Cancer Screening
Surgery
• Help other family members
© 2013 Rising Tide

32. Genetic Testing - Considerations
•
•
•
•
•
Emotional reactions
Testing minors
Non-informative results
Confidentiality concerns
Fears of genetic discrimination
– HIPAA
– GINA (Genetic Information Non-Discrimination Act)
• Does not eliminate other causes of cancer
© 2013 Rising Tide

33. Case Example
• A 46 year-old women is diagnosed with a triple negative
breast cancer in her left breast.
• Her paternal grandmother died of breast cancer at age
45.
• Her father was an only child, and she is also an only
child.
• She stated she would change her breast cancer surgical
decision-making if she has a BRCA1 or BRCA2
mutation.
• Her ovaries are intact.
© 2013 Rising Tide

34. Case Example (continued)
• The patient postponed her breast surgery until after her
test results were available.
• She tested positive for a BRCA1 mutation and decided
to have bilateral mastectomies and has future plans to
surgically remove her ovaries.
• Her 22 year old daughter’s genetic test results are
pending.
© 2013 Rising Tide

35. Summary
• Genetic counselors help patients understand and adapt
to the implications of genetic diseases and make
informed decisions about genetic testing.
• There are multiple risk factors for breast cancer.
• All cancer is genetic, but most cancers do not happen
because of inherited reasons.
• The likelihood of an inherited risk for breast cancer is
determined by an individual’s personal and family
histories.
• Genetic test results impact medical management.
• www.nsgc.org
© 2013 Rising Tide

36. Thank you!
Eric Fowler, MS, C/LGC
Certified/Licensed Genetic Counselor
Cancer Treatment Centers of America
© 2013 Rising Tide