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Telephone Disclosure
Visual Aid Toolkit
This is your visual aid toolkit that will be used during
your disclosure appointment.
Included in this packet are:
 Definitions and descriptions of things that will be
discussed during your disclosure
 An Example of what genetic test results can look
like

This example can look a little different from what
your real test result will look like
Please remember, if you will be receiving your
results by telephone, you will be asked for your
password at the start of your telephone
disclosure.
Please remember to have your visual aids available
IF you are receiving your results by telephone.
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Make the test result
page two– maybe save
as jpeg to paste content
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Possible BRCA1 and
BRCA2 Test Results

There are 4 possible test results:

Positive: A mutation in either BRCA1 or BRCA2 is found in
the person who BRCA1 and/or BRCA2 testing. This means
that a person with a positive result has an increased risk of
breast cancer, ovarian cancer, and some other types of
cancer.

No Mutation Found:
 True Negative: A BRCA 1 or BRCA2 mutation has
already been found in another family member, and the
person being tested has not inherited that mutation.
The risk for some types of cancer for a person with a
true negative test result is thought to be no higher than
the general population.
 Uninformative Negative: No mutation has been found
in BRCA1 or BRCA2. This is different from a True
Negative result because no other family member has
been tested and found to have a mutation. It is unclear
with this type of result if the cancer[s] in a family are due
to BRCA1 or BRCA2 mutation.


This type of result is more informative for a person with
certain types of cancer than it is for individuals with no
personal cancer history
Variant of Uncertain Significance: An alteration in the
genetic code of BRCA1 or BRCA2 has been found but it is
not clear what this result means for cancer risk. What a
genetic counselor or doctor can tell a person with this type of
result about their risk for certain cancers could change in
the future as more is learned about the variant.
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Understanding a
Positive Test Result

A mutation has been found in either BRCA1 or BRCA2.
This mutation puts a person at an increased risk of
developing breast cancer and/or ovarian cancer, as
well as some other cancers.

Recommendations to help you manage your cancer
risk might include:
 Increased cancer screening
 Chemoprevention [medications that reduce cancer risk]
 Preventative surgery
 Lifestyle changes

First degree blood relatives of someone who has tested
positive for a BRCA1 and/or BRCA2 mutation have a
50% chance of having that same mutation.
 This includes a person’s mother, father, sisters,
brothers, sons and daughters

Other relatives of an individual who test positive for a
mutation, like aunts, uncles, nieces and nephews, may also
have that same mutation.
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Understanding a
True Negative Test Result

Individuals with a True Negative test
result have not inherited a BRCA1 and/or
BRCA2 mutation that was previously
found in a relative.

Because there is no mutation, an
individual with a True Negative test result
has a risk of developing cancer similar to
that of the general population.

Most often, individuals who test True
Negative are recommended to continue
using the same cancer screening
recommendations that are given to the
general population.
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Understanding an
Uninformative Negative
Test Result


No mutation was found in the BRCA1 or BRCA2 genes.
What this result could mean about you and your family:






There are no mutations in the BRCA genes in you or your
family. The cancer[s] in either you and/or your family may have
been caused by other factors that are not understood right now
OR
Someone in your family who has not been tested does have a
mutation in the BRCA genes, but you did not inherit it OR
There is a small possibility that you and/or someone in your
family has a mutation in either BRCA1 or BRCA2 that cannot
be detected by the current technology OR
There is a possibility that you and/or someone in your family
have a different type of gene mutation
 This can be in a completely different or more rare gene
OR
 A mutation in a gene that science has not yet discovered a
way to detect
Further testing of additional family members may help
clarify results.
People with this type of result are given
recommendations based on their personal and family
history of cancer.
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Understanding Variant of
Uncertain Significance
Test Result




A Variant of Uncertain Significance is an
alteration that has been found that we are
unable to interpret at this time. Currently,
we don’t know if it is harmful or not.
The risk for breast, ovarian and other
cancers cannot be fully understood at this
time.
People with a Variant of Uncertain
significance are given recommendations
based on personal and family history of
cancer.
Blood and/or tumor samples from other
relatives may be asked for to further
study this Variant and cancer risk.

This type of test result might be reclassified in the
future.

These results may not be available for a long time.
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Risk for Cancer [women]
[Percentages may vary slightly from resource to resource]
LIFETIME RISK FOR BREAST CANCER:
GENERAL POPULATION
= 12%
BRCA MUTATION CARRIER
= 40 to 80%
LIFETIME RISK FOR OVARIAN CANCER:
GENERAL POPULATION
= 1.5%
BRCA MUTATION CARRIER
= 10 to 45%
100
General
Population
90
80
BRCA Mutation
Carriers
70
40-80%
Cancer Risk (%)
60
50
40
30
10-45%
20
10
0
Breast
Ovarian
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Risk for a Second Primary
Breast Cancer [women]
[Percentages may vary slightly from resource to resource]
LIFETIME RISK FOR A SECOND PRIMARY BREAST
CANCER:
GENERAL POPULATION
= 8%
BRCA MUTATION CARRIER
= 50 to 60%
100
90
80
70
60
50
40
50-60%
General Population
BRCA Mutation Carriers
30
20
10
0
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Lifetime Risk of Cancer
[men]
[Percentages may vary slightly from resource to resource]
LIFETIME RISK FOR MALE BREAST CANCER:
GENERAL POPULATION
= 0.1%
BRCA MUTATION CARRIER
= 1 to 10%
LIFETIME RISK FOR PROSTATE CANCER:
GENERAL POPULATION
= 16%
BRCA MUTATION CARRIER
= 15 to 20%
100
General
Population
90
80
BRCA Mutation
Carriers
70
Cancer Risk (%)
60
50
40
30
20
15-20%
10
1-10%
0
Breast Cancer
Prostate Cancer
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DEFINITIONS

Alteration - A change in the usual DNA sequence of a particular gene. These can
be harmful, beneficial, or neutral in their effect on cell function.

Cancer Screening - Checking for disease when there are no symptoms. Since
screening may find diseases at an early stage, there may be a better chance of
curing the disease. Examples of cancer screening tests are the mammogram
(breast), colonoscopy (colon), and the Pap test and HPV test (cervix). Screening
can also include checking for a person’s risk of developing an inherited disease by
doing a genetic test.

Chemoprevention - The use of drugs, vitamins, or other agents to try to reduce the
risk of, or delay the development or recurrence of, cancer.

Disclosure - Another term used to describe the appointment when you receive your
test results.

First Degree Blood Relatives - Mother, Father, Sister, Brother, Children

Genes - The functional and physical unit of heredity passed from parent to
offspring. Genes are pieces of DNA, and most genes contain the information for
making a specific protein.

Inherited - Transmitted through genes that have been passed from parents to their
offspring (children).

Mutation - Any change in the DNA of a cell. Mutations may be caused by mistakes
during cell division, or they may be caused by exposure to DNA-damaging agents in
the environment. Mutations can be harmful, beneficial, or have no effect. If they
occur in cells that make eggs or sperm, they can be inherited; if mutations occur in
other types of cells, they are not inherited. Certain mutations may lead to cancer or
other diseases.

Pedigree - A diagram that shows relationships among family members. In
medicine, a pedigree may also show the pattern of certain genes or diseases within
a family.
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