Transcript Hereditary Factors in Breast Cancer

Hereditary Factors
in Breast Cancer
Jessica Ray, MS, CGC
Genetic Counselor
OBJECTIVES:
• Discuss who should consider genetic
counseling and genetic testing
• Discuss risks for cancers associated with
BRCA1/2 mutation
• Cancer Risk Reduction Options
• Important Points of Genetic Testing
• Cost of Genetic Testing and Insurance
Issues
Reasons for Seeking
Genetics Consultation
• To learn about
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•
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Personal risk for cancer
Children’s risk for cancer
Family’s risk for cancer
Risks for developing cancer if you have a “cancer
gene”
• Recommendations for screening, surveillance,
and/or treatment
• Educational information
• To obtain genetic DNA testing
J Med Genet 2000; 37:866-874
Key Flags that Warrant
Genetic Counseling
• Significant family medical history-breast, ovarian,
prostate, colon, melanoma, pancreatic, or other cancers
• Cancer occurs in every generation
• Early age of onset (< 50 years)
• Male breast cancer
• Bilateral cancer, or multiple primary cancers in one
individual
• Known family genetic mutation
• Ethnicity – Ashkenazi Jewish ancestry
A BRCA Mutation Increases Risk of
Second Cancer
General Population
BRCA Mutation
Risk of Cancer (%)
60
Up
to
27%
40
20
16%
Up to
11%
Up to
64%
Up to
11%
*
0
Ovarian Cancer Breast Cancer Breast Cancer
after 5 yrs
by age
70
* no statistic
available
JNCI 1999;15:1310-6
JCO 1998;16:2417-25
Lancet 1998;351:316-21
JCO 2004;22:2328-35
Lancet 1994;3343:692-5
Average Age of Diagnosis
Hereditary
Sporadic
• Breast
41 • Breast
• Prostate 63 • Prostate
• Ovarian 40-50 • Ovarian
62
71
60
RISK REDUCTION OPTIONS
• Surveillance
• Alternate Mammogram and Breast MRI every 6
months
• CA-125 and Pelvic/Ovarian Ultrasound annually
• Prophylactic Surgeries
• Prophylactic Bilateral/Unilateral Mastectomy =
90% reduction in breast cancer risk
• Prophylactic Bilateral Oophorectomy = 96%
reduction in ovarian cancer risk
• If PBO performed pre-menopausally, also gives
a 50% reduction in breast cancer risk
• Chemoprevention
• Tamoxifen, Raloxifene
When Do You Offer Testing?
• American Society of Clinical Oncology recommends
offering genetic testing when:
• The individual has a personal or family history of
features suggestive of a genetic cancer susceptibility
condition
• The test can be adequately interpreted
• The results will aid in diagnosis or influence the
medical or surgical management of the patient or
family members at hereditary risk of cancer
ASCO recommends genetic testing only
in the setting of pre- and post-test
counseling, which should includes
discussion of possible risks and benefits
of cancer early detection and prevention
modalities
Commercial BRCA testing
• BRCA1 and BRCA2 testing is available only at
Myriad Genetic Laboratories
• In 2001, added 5 specific large rearrangements
in BRCA1
• August 2006, new panel added to detect large
rearrangement in both BRCA1 and BRCA2
• Cost of full sequencing of both BRCA1 and
BRCA2 genes is $4,000, Cost of testing for a
known family mutation is $475
GINA-Genetic Information
Nondiscrimination Act
• Prohibits use of an individual’s genetic information
in setting eligibility or premium or contribution
amounts by group and individual insurers
• Prohibits health insurers from requesting or
requiring an individual to take a genetic test
• Does not prohibit medical underwriting based on
current health status
• Prohibits use of an individual’s genetic information
by employers in employment decisions such as
hiring, firing, job assignments, and promotions
• Prohibits employers from requesting, requiring, or
purchasing information about an individual
employee or family member
Final Take Home Message
• Evidence that many women overestimate their risk of
developing breast cancer
• Genetic testing may provide accurate risk assessments for
both breast and ovarian cancer
• Not everyone found to have a BRCA1/2 mutation will
develop cancer!
• Negative genetic test result DOES NOT mean
No Increased Risk!!
• What do we offer women at high risk for breast and
ovarian cancer who test negative commercially for a
BRCA1/2 mutation?
• HIGH RISK BREAST CANCER CLINIC AT AZCC