Download Breast and Ovarian Cancer

Breast and Ovarian Cancer
Hereditary Breast and Ovarian Cancer
A Guide for Patients
KNOWING WHAT TO LOOK FOR
KNOWING WHERE TO LOOK
AND KNOWING WHAT IT MEANS
Hereditary Breast and Ovarian Cancer
What is hereditary breast and ovarian cancer
(HBOC)?
Breast and ovarian cancer occur when normal cells in the breast or ovary
begin to grow uncontrollably, forming a mass called a tumor. Breast cancer
is the most common cancer in women, diagnosed in 1 out of every 8 (~12%)
women. Although the disease occurs more frequently in women, breast
cancer can also occur in men. Ovarian cancer is the ninth most common
cancer among females, occurring in 1 out of every 70 women. While the
majority of breast and ovarian cancer is not inherited, approximately 5-10%
of all cases of breast cancer and 25% of all cases of ovarian cancer are
associated with a change, or mutation, in a gene that can be passed
down from generation to generation. This is referred to as hereditary breast
and ovarian cancer, or HBOC. In addition to breast and ovarian cancer,
individuals who carry a genetic mutation associated with HBOC may also
have an increased risk for other types of cancer, such as pancreatic cancer,
melanoma (skin cancer) and prostate cancer.
How is HBOC inherited?
Most genes that cause a hereditary
form of cancer are inherited in an
autosomal dominant manner. Genes
provide the instructions for normal
cell growth and development. Each
of us has two copies of our genes,
one copy that we get from our mother
and one copy from our father. In a
dominant condition, a mutation in
just one copy of the gene can lead
to symptoms of the condition, in this
case, an increased risk of cancer.
Since we only give half of our genetic
1
Autosomal Dominant
Unaffected
father
Affected
mother
Affected
Unaffected
Affected
son
Unaffected
daughter
Unaffected Affected
son
daughter
Adapted from U.S. National Library of Medicine
information to our children, if a person has a dominant condition, there is
a 50-50 chance to pass down the genetic mutation to each child, male
or female. Siblings of an individual with a mutation also have up to a 50%
chance to have the same disease-causing mutation. The risk for other family
members to carry the same genetic mutation depends on how closely
related they are to an affected individual. It is important to remember that not
all people who inherit a mutation in one of their genes will develop cancer.
However, the chance to develop cancer will be greater if a person inherits a
mutation in a cancer-related gene.
What genes are commonly associated with
HBOC?
Hereditary breast and ovarian cancer has been linked to mutations in
a number of different genes. Most frequently, HBOC is associated with
mutations in the BRCA1 and BRCA2 genes. The lifetime risk for breast
and ovarian cancer in women with a mutation in one of these genes is
significantly increased over the general population risk. Women with BRCA1
mutations have between 57-87% lifetime risk to develop breast cancer.
BRCA2 mutation carriers have a 41-84% lifetime risk to develop breast
cancer. The lifetime risk to develop ovarian cancer is between 24-54% for
BRCA1/2-Associated Lifetime Risks by Cancer Type
100
BRCA1*
57-87% 41-84%
BRCA2
Probability (%)
80
60
24-54%
40
20-34%
11-27%
20
5-7%
4-7%
0
Female
Breast
Male
Breast*
Ovarian
Pancreatic*
Prostate*
Cancer Type
*Individuals with BRCA1 mutations have increased risks for male breast, prostate,
and pancreatic cancers, however the exact risks are not well-defined.
PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER
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BRCA1 and 11-27% for BRCA2 mutation carriers. Women with a change
in one of these genes also have an increased risk for other types of cancer,
including pancreatic cancer and melanoma. Men with a change in either
of these genes have a higher chance of developing cancer as well. These
cancers include breast, prostate, pancreatic and melanoma.
In addition to the BRCA1 and BRCA2 genes, there are a number of other
genes that are associated with HBOC. GeneDx offers a comprehensive test
for breast and ovarian cancer, which detects changes in the BRCA1 and
BRCA2 genes along with other known genes that are clinically determined
to increase the risk of breast and/or ovarian cancer. For more information,
please visit our website: www.oncogenedx.com
Who should consider genetic testing for
hereditary breast and ovarian cancer?
Pre-test genetic counseling is recommended for individuals who are either
interested in understanding their risks and/or meet the clinical criteria and
are considering testing for hereditary breast and ovarian cancer.
Your doctor or genetic counselor may recommend that you consider HBOC
genetic testing if you meet certain criteria. These clinical criteria include:
• A personal or family history of multiple related cancers (examples of
related cancers include breast and ovarian cancers).
• A personal or family history of breast cancer at a young age. Generally,
cancers due to a hereditary predisposition are diagnosed under the
age of 50.
• A pattern of cancer in which the individuals with similar or related
cancers are on one side of the family spanning multiple generations.
• A personal or family history of breast or ovarian cancer along with
Ashkenazi Jewish ancestry.
• A personal or family history of bilateral breast cancer (cancer in both
breasts).
• A personal or family history of ovarian, primary peritoneal, fallopian
tube, or male breast cancer, regardless of age.
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What can I expect to learn from genetic testing
for HBOC?
There are three possible outcomes following genetic testing for HBOC:
Positive Result
A positive result means that a disease-causing mutation has been identified
and the risk for cancer is increased. The lifetime risk for cancer depends
on which gene was identified as having a disease-causing mutation.
Doctors can use this information to determine the most appropriate
medical management plan, which may include increased cancer screening,
medications to reduce the risk of cancer and/or surgery. First-degree
relatives, including parents, siblings and children, have up to a 50% risk to
carry the same mutation. Individuals who have a positive result should share
a copy of their test report with family members so they can discuss genetic
testing and medical management options with their physician and genetic
counselor.
Negative Result
A negative results means that a disease-causing mutation was not identified.
This result can have different implications, depending on the specific set of
circumstances related to the testing. It is important to speak with a physician
or genetic counselor to learn about the significance of negative HBOC
genetic testing results in light of an individual’s own medical and family
history.
Variant of Unknown Significance (VUS)
A variant of unknown significance (VUS) means that a genetic change in
a gene associated with HBOC was detected; however, it is not currently
known whether this genetic change is associated with an increased risk of
breast, ovarian or other cancers or it is a normal variant in the gene, which is
not associated with an increased risk of cancer. To further clarify the clinical
significance of the VUS, it may be helpful to test other family members. If
relatives with cancer also have the variant, it is more likely that the variant
causes breast and/or ovarian cancer. The greater the number of affected
PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER
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family members who carry the VUS, the greater the likelihood that the VUS is
responsible for breast and/or ovarian cancer in the family. Over time, the VUS
may become reclassified to either a “positive” or “negative” test result.
How long does it take to get results?
It will take approximately four weeks to complete the test (from the time
the lab receives the blood sample to the time your physician receives the
results). If you have been tested for BRCA1/2 only, it will take approximately
2 weeks to receive your results. Your physician or genetic counselor will
share your results with you and discuss them in the context of your medical
and family histories.
Will my insurance cover this test?
GeneDx accepts all commercial insurance. GeneDx will bill your insurance
company and appeal for payment. For more information, please visit our
website at: www.oncogenedx.com or call us at 888-729-1206.
What if I do not have insurance?
If you do not have health insurance or cannot afford to pay the full cost
of testing, GeneDx provides a generous financial assistance program,
including a significantly discounted price. For more information, call us
at: 888-729-1206.
If I test positive for a mutation, can GeneDx test
my family members for the same mutation?
Yes, GeneDx offers mutation-specific testing (for a known mutation) for family
members of anyone who has been shown by GeneDx to have a genetic
mutation. In most cases, testing a family member for a known mutation is
performed simply by looking for the particular mutation or mutations that
you have. This testing is done from a blood sample and must be ordered
by a doctor. Sharing a copy of your genetic test report can help your family
member’s doctor or genetic counselor order the correct genetic testing. If a
family member has been tested at another lab, we can still test you or other
family members. We require at least a copy of the report from the laboratory
that previously performed the testing on your family member, and we also
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prefer blood from the previously-tested relative to be sent along with the
sample for confirmation. For more information, please call one of our genetic
counselors at: 888-729-1206.
Can my health insurer or employer discriminate
against me based on my test results?
No, The Genetic Information Nondiscrimination Act of 2008, also referred
to as GINA, is a federal law that protects Americans from discrimination
by health insurance companies and employers based on their genetic
information. However, this law does not cover life insurance, disability
insurance, or long-term care insurance. GINA’s employment protections
do not extend to individuals in the U.S. military, federal employees,
Veterans Health Administration and Indian Health Service. Some of these
organizations may have internal policies to address genetic discrimination.
For more information, please visit: http://genome.gov/10002328
Resources for Patients
• Bright Pink: www.brightpink.org
• FORCE: www.facingourrisk.org
• NCI: www.cancer.gov
• National Society of Genetic Counselors: www.nsgc.org
• Sharsheret: www.sharsheret.org
• Susan G. Komen: www.komen.org
PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER
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How can I order this test?
Your physician can order this test by taking the following steps:
1. Download the OncogeneDx test requisition form from the GeneDx
website: www.genedx.com/forms
2. Complete all the forms with required information
3. Ship completed forms along with two 4mL lavender top tubes of blood
samples per person to the following address:
Accessions
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
We provide shipping kits to physicians upon request. To place an order for
shipping kits, please visit our website: www.genedx.com/supplies or email
us at: [email protected]
About GeneDx
GeneDx is a highly respected genetic testing company, founded in 2000
by two scientists from the National Institutes of Health (NIH) to address the
needs of patients and clinicians concerned with rare inherited disorders.
Currently, GeneDx offers whole exome sequencing, oligonucleotide
microarray-based testing for detecting chromosomal abnormalities, testing
for inherited eye disorders and autism spectrum disorders and gene panels
for testing various forms of inherited cardiac disorders, mitochondrial
disorders, neurological disorders and inherited cancer disorders. At GeneDx,
our technical services are matched by our scientific expertise and customer
support. Our growing staff includes more than 40 geneticists and genetic
counselors specialized in clinical genetics, molecular genetics, metabolic
genetics and cytogenetics who are just a phone call or email away. We invite
you to visit our website: www.genedx.com to learn more about us and the
services we offer.
207 Perry Parkway
Gaithersburg, MD 20877
T 1 888 729 1206 • F 1 201 421 2010
E [email protected] • www.genedx.com
© 2015 GeneDx. All rights reserved. 91438 04/15
Information current as of 12/2014