Hereditary Breast &
Ovarian Cancer
Syndrome
HBOC
Tammy McKamie RN MSN OCN
Cancer Genetics Educator
Clinical Oncology Patient Navigator
Objectives
• Understand the application of genetics in the
nursing assessment.
• Identify risk factors (red flags) that potentially
increase a person’s risk for hereditary cancer.
• Differentiate between sporadic and inherited
cancer.
• Summarize surveillance and medical management
options for individuals and families based on
possible genetic testing outcomes.
Objectives
• Analyze the impact of genetic conditions
on patients and their families.
• Discuss the ethical, legal, and social
issues involving genetic education and
testing.
• Evaluate the pros and cons of genetic
testing
Human Genome Project
• Began in 1990,
• A 13-year Project
• Coordinated by the U.S. Department of
Energy and the National Institutes of
Health.
Genetic Testing Available:
• Breast Cancer
• Ovarian Cancer
• Colorectal Cancer
• Endometrial (uterine) Cancer
• Melanoma
Hereditary Breast & Ovarian Cancers
90%
7-10%
Sporadic
Hereditary
Cells have Two Copies of Each Chromosome
Father
Mother
x
Y
x
Child
x
TUMOR SUPPRESSOR GENES
MSH6
MLH2
MSH1
APC
EPCAM2
PMS2
BRCA2
p16
BRCA1
x
Cancer arises when both copies of tumor
suppressor genes are inactivated
Tumor
develops
In hereditary cancer, one damaged gene is
inherited.
2 normal
genes
1 normal gene 2 damaged
1 damaged gene genes
1 normal gene 2 damaged
1 damaged gene genes
Tumor
develops
Sporadic vs Inherited
Sporadic – No clear pattern of inheritance
Common types of cancer diagnosed
@ standard ages > 50 y/o
Inherited – Multiple generations affected with
same type of cancer
Diagnosed @ young age < 50 y/o
Autosomal Dominant Inheritance
Father with
mutation on
one
chromosome
Each child has a 50% chance of
inheriting an Autosomal Dominant
disorder
RED FLAGS
For Hereditary Cancer
Syndromes
Young age of cancer (<50) in patient or family
Breast
Colon
Endometrial (uterine)
RED FLAGS
For Hereditary Cancer
Syndromes
Multiple family members with the same cancer
Breast/ovarian
Colon/Endometrial
Melanoma/pancreatic
RED FLAGS
For Hereditary Cancer
Syndromes
Rare cancers in patient or family
Ovarian cancer any age
Male breast cancer
Individuals with multiple primary cancers
Signs of Sporadic Cancer
d. 65
Prostate ca dx 59
78
d. 80
heart
70
d. 70
heart
d. 76
COPD
76
Cervical ca dx 56
58
Breast ca
dx 57
76
70
Lung ca
dx 60
56
49
75
Signs of Hereditary Cancer Syndromes
86
d. 70
heart
d. 80
heart
d. 56
Ovarian
76
78
70
77
70
Ovarian ca
dx 62
58
breast ca
dx 48
56
49
75
BRCA 1or 2 Mutations Increase the
Risk of Early Onset Breast Cancer
By age 40 By age 50 By age 70
Population
Risk
Hereditary
Risk
0.5%
2%
7%
10%20%
33%50%
56%87%
BRCA 1 or 2 Mutations Increase the
Risk of Ovarian Cancer
By age 70
Population Risk
1-2%
Hereditary ~ 44% (BRCA1)
Risk
~ 27% (BRCA2)
Managing Hereditary Cancer Risk
Improved outcomes with proven medical
interventions*
• Surveillance
• Chemoprevention
• Prophylactic surgery
*Individual risk reduction may vary based
on personal health history
JAMA 2000;283:617-24
Surveillance
• Monthly Self-Breast Exams starting @ 18y
• Clinical Breast Exam, Semiannually, starting @ 25yrs
• Annual Mammogram & Breast MRI (Breast Coil)
starting @ 25 yrs
• Trans-vaginal US every 6 months
• Serum CA-125 every 6 months
NCCN Practice Guidelines in Oncology-v.1.2008 HBOC
EARLY DETECTION IS THE KEY!
Chemoprevention
• Tamoxifen effective in prevention of
contralateral breast cancer
Reducing the risk up to 49%
NCCN Practice Guidelines in Oncology-v.1.2008 HBOC
Prophylactic Surgery
• Bilateral Mastectomy
Reducing the risk by 90%
• Bilateral Oophorectomy
Reducing the risk of Breast Cancer by 68%
Reducing the risk of Ovarian Cancer by 96%
NCCN Practice Guidelines in Oncology-v.1.2008 HBOC
For Men
• Risk for Developing Breast Cancer Increases 1%
(general Pop) to 7%
• Risk for Developing Prostate Cancer Increases
15% (general Pop) to 20%
NCCN Practice Guidelines in Oncology-v.1.2008 HBOC / b.2.2007 PCED
For Men
• Monthly Breast self-exams
• Semi-annual Clinical Breast exam
• Consider baseline Mammogram
• PSA starting @ 40 y/o
NCCN Practice Guidelines in Oncology-v.1.2008 HBOC / b.2.2007 PCED
PRO
Identification of Family Members
Not at Risk
• Negative for known familial BRCA mutation
–Did not inherit cancer risks
• General population screening guidelines
• Avoid unnecessary screening and possibly surgery
PRO
Genetic Discrimination
Myth versus Reality
• Federal and state laws prohibit the use of genetic
information as a ‘pre-existing condition’
 Federal HIPAA & GINA (Genetic Information Nondiscrimination Act)
 The majority of states have additional laws
including Texas, Arkansas, Louisiana, &
Oklahoma
No documented cases of genetic discrimination
http://www.ncsl.org (National Conference of State Legislature)
PRO
Insurance Coverage of Genetic
Testing
• Most insurers provide coverage for genetic
testing
– On average, a patient will pay $300 or less
out-of-pocket
• Established guidelines meeting criteria
– Medicare pays 100%
– Most major carriers
– Myriad’s Indigent Program pays 100%
CONS & SOLUTIONS
• Cost
--Genetic Testing
– ↑ Screenings
→
• Assistance Programs
– Free or reduced Screenings
Surgery
• Lack of Genetic Educators
& Counselors
→
• Educate nurses working in
High Risk areas to Identify
Pts
• On line list of available sites
• Free Kits
• Lack of availability of
Testing
→
• Fear of Discrimination
→
• Reassurance & providing
copies of Federal & State
Laws
• Education
• Feeling of Guilt
→
Nursing Responsibilities
The International Council of Nurses (ICN)
Code of ethics for nurses states primary
responsibility of nursing is to ensure that a
patient receives adequate information on
which to base care and treatment
decisions.
•
http://www.icn.ch/abouticn.htm
NURSING IMPLICATIONSResearch
– Support – Advocate – Participate
Education
– Plan and push for genetic content integration
– Ensure nursing guidelines have incorporated ethical
principles regarding genetic information
– Develop appropriate clinical application of genetic
technology
Social
– Define and develop policies addressing ethical, legal,
and social implications
NURSING IMPLICATIONS
Ethical, Legal & Social
• Privacy and confidentiality of genetic information.
• Individuals own and control information, entitled to
privacy.
• Misuse of genetic information.
• Who should have access and how it will be used?
• Stigmatization – Use of information to marginalize and
discriminate based on persons genes.
References
• http://www.nursingworld.org/Main
MenuCategories/EthicsStandards/Ge
netics1.aspx
• Essential Competencies
• Professional Responsibilities
OR
• http://www.genome.gov/Glossary
The Talking Dictionary developed by The National Human Genome
Research Institute (NHGRI)
Sporadic or Hereditary ?
75
breast ca
dx 49
78
d. 56
Prostate ca
d.36
MVA
70
breast ca
dx 49
72
75
d. 70
heart
70
Leukemia
dx 68
58
Ovarian ca
dx 58
56
49
75
Knowledge is Power & Hope