Transcript Ovarian Genetic ppt 2015 - Ovarian Cancer Alliance of Oregon

Genetics and Ovarian Cancer
June 16, 2015
Ovarian Cancer Alliance of Oregon and SW Washington
Becky Clark, MS, CGC
Genetic Counselor
Risk for Ovarian cancer
• ~20% of ovarian cancers are related to an
inherited cancer syndrome
• ~80% of ovarian cancers are sporadic
Your relative with
ovarian cancer
Your risk
None
1%
Mother/Sister
4-6%
Grandmother/Aunt
1-2%
Cancer development
Normal cells
One cell at risk
Tumor develops
First mutation
Second mutation
Autosomal Dominant Inheritance
Parents
Children
50% chance of
inheriting gene change
50% chance of inheriting
unchanged gene
Gene mutations increasing risk for
ovarian cancer
•Hereditary breast and
ovarian cancer syndrome
• BRCA1, BRCA2
•Lynch syndrome
• MLH1, MSH2, MSH6,
PMS2, EPCAM
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BARD1
BRIP1
CDH1
CHEK2
MRE11A
MUTYH
NBN
PALB2
RAD50
RAD51C
RAD51D
STK11
TP53
Goals of genetic testing
• Understand cause of cancer in family
• Surveillance and prevention of other cancers
• Allow unaffected family members to test
• Surveillance
• Prevention options
• Family planning
Hereditary breast and ovarian cancer
syndrome: BRCA1 and BRCA2
Prevalence in the general population: ~1 in 400
Prevalence in the Ashkenazi Jewish population: ~ 1 in 40
Consider when history includes one of the following:
• Ovarian cancer at any age
• Breast cancer at or before age 50
• Triple negative breast cancer at or before age 60
• Two primary breast cancers in the same person or on the
same side of family
• Breast and ovarian cancer in the same person
• ≥3 relatives with breast, ovarian, pancreatic cancer and/or
aggressive prostate cancer on the same side of family
• Ashkenazi Jewish Ancestry and a personal or family history of
breast, ovarian or pancreatic cancer
• Male breast cancer
BRCA mutation cancer risks
General Population
BRCA1 or BRCA2 mutation
Breast
12%
40-80%
Ovarian
1%
11-40%
Male Breast
0.1%
1-10%
Prostate
15-18%
<30-39%
Pancreatic
0.5%
1-7%
Increased risk for a second primary breast cancer
Reports of increased risk for melanoma
BRCA family tree
Lynch syndrome: MLH1, MSH2, MSH6,
PMS2, EPCAM
Consider when history includes one of the following:
• Colon cancer before age 50
• Uterine cancer before age 50
• ≥ 2 Lynch cancers in the same person
• ≥ 2 relatives with a Lynch cancer, one <50 years
old
• ≥ 3 relatives with a Lynch cancer at any age
• Abnormal MSI and/or IHC tumor test result
• Performed on colon and uterine tumors
Lynch syndrome cancer risks
General Population Risk
Lynch syndrome
Colorectal
5.5%
40-80%
Uterine
2.7%
25-60%
Stomach
<1%
1-13%
Ovarian
1.6%
1-24%
Also at increased risk:
Small intestine, biliary system (pancreas, liver, bile duct),
brain, skin, and urinary tract (kidneys, ureters, bladder,
urethra)
Lynch family tree
Genetic testing for ovarian cancer
• Ashkenazi Jewish? Start with the three founder
mutations in BRCA1 and BRCA2
• Testing to include BRCA1, BRCA2, and Lynch
syndrome
• Recent availability of panel tests: covers BRCA1,
BRCA2, Lynch syndrome, and other more rare,
lower risk genes
• Single site testing for family members if relative
tests positive
Insurance coverage
• Covered benefit if medical criteria is met (NCCN
criteria). Some insurance have their own criteria.
• Always pre-authorized by the genetic testing lab
• Out of pocket cost depends on your insurance plan
• Discounted prices for those without insurance
coverage
Laws that protect against genetic
discrimination in health insurance and
employment
• HIPAA: Health Insurance Portability and Accountability
Act
• Federal law
• GINA (Genetic Information Non-Discrimination Act) 2008
• Applies to family history and genetic test results
• Does not cover life insurance, long-term disability
• State laws
• Oregon law DOES cover life insurance and long-term
disability
• Applies to genetic test results, not family history
Types of results from genetic testing
• Negative: no mutation detected
• Base cancer risks on family history
• Positive: mutation detected that causes an increased risk
for cancer
• Follow management guidelines for care
• Offer genetic testing to other family members
• Variant of uncertain significance (VUS):
• Change identified, but not enough evidence to determine if
disease causing or benign
• Identified in ~10% of tests
• Cannot test family members. Exception: Family Studies
Programs
• VUS will be reclassified over time
Thinking about the future
• DNA banking
• Store DNA at a facility for future testing
• Fertility preservation and family planning
• Freezing eggs
• Pre-implantation Genetic Diagnosis (PGD)
• Prenatal testing (amniocentesis)
Contact
Compass Oncology GREAT Program
Genetic Risk Evaluation & Testing
Lucy Langer, MD, MSHS
Becky Clark, MS, CGC
Lisa Clark, FNP, AOCNP, APNG
Phone: 503-297-7403