Download Genetic Testing for Hereditary Ovarian, Uterine

patient information
Genetic Testing
for Hereditary Ovarian,
Uterine and Breast Cancer
Q&A
ovanext
™
What is hereditary cancer?
A majority of cancers including ovarian, uterine
and breast cancer occur in individuals without a
previous family history of cancer. However, up
to 10% of uterine and breast cancer cases and
up to 25% of ovarian cancer cases have an
underlying hereditary cause.1-7
In these cases, an inherited change (or mutation)
in a gene can be passed from one generation
to the next and can significantly increase an
individual’s lifetime cancer risk. Additional
contributors can include environmental factors
and lifestyle choices.
Understanding the underlying genetic
contribution to hereditary cancers can give
insight to individual and familial risk. This can
be especially important for cancer survivors,
as knowing a molecular diagnosis can help
doctors plan for continued cancer surveillance
and risk-reducing strategies.
what might raise my ovarian,
uterine or breast cancer risk? 8,9
Risk Factors
Ovarian Cancer
Uterine Cancer
ETHNICITY
- African American, Asian & Hispanic
women are more likely to develop cancer
<45-years-of-age
x
PERSONAL MEDICAL HISTORY
- Lobular carcinoma in situ, proliferative
breast disease (e.g. usual or atypical
hyperplasia), dense breast tissue
- Polycystic Ovary syndrome
x
x
x
x
- Type 2 Diabetes
FAMILY HISTORY
- Genetic mutations (syndrome specific)
x
x
- Risk doubles for those with one
affected first-degree relative*
- Risk increases up to 9.4% with multiple
affected first-degree relatives*
x
x
- Use of estrogen for HRT without
progesterone**
x
x
x
x
x
x
LIFESTYLE CHOICES
- Consuming 2-5 alcoholic drinks
a day increases risk by 1% above
the general population
- Lack of physical activity and/or BMI>30
x
x
REPRODUCTIVE FACTORS
- Early menarche (<12-years) and/or
late menopause
- No prior successful pregnancies and/or
use of fertility medication > 1 year
Breast Cancer
x
x
x
x
Research highlights several factors that can increase an individual’s risk to develop uterine, ovarian
or breast cancer. The risk factors described above apply to only females and can increase after
50-years-of age. Individuals of Ashkenazi Jewish descent have a higher chance of being a mutation
carrier that can predispose to certain types of cancer.
*A first-degree relative is a sibling or parent.
**Applies to women underoing hormone replacement therapy (HRT) with an intact uterus.
why get a genetic test ?
is ovanext right for me?
Hereditary cancers can occur earlier
in life as a result of inherited
mutations. These mutations can
predispose to more than one type of
cancer and it is important to know
your genetic testing options as early
as possible in order to help guide
management and predict risk to other
family members. A consultation with
a cancer specialist and genetics
professional can be especially helpful.
OvaNext may be appropriate for
individuals with a personal or family
history of the following:
what is ovanext ?
OvaNext is a genetic test provided by
Ambry Genetics that utilizes nextgeneration sequencing technology to
analyze nineteen genes associated
with an increased risk for breast,
ovarian and/or uterine cancers. These
genes are analyzed simultaneously,
reducing cost and time.
ovanext genes and their
known associations by
cancer type
Ovarian cancer at any age
Ovarian or uterine cancer along with
other primary cancers (e.g. ovarian,
breast, colorectal and others)
ovarian
Early-onset breast cancer when there
is a family history of ovarian, uterine
or other cancers
Previous genetic testing was either
negative or identified a variant of
unknown significance (VUS)
(e.g. negative BRCA1/2 or Lynch
syndrome genes)
BARD1 RAD51C
MLH1*
RAD50 BRIP1 NBN
MSH6* PMS2*
MRE11A PALB2
MUTYH
STK11
MSH2*
TP53
EPCAM
CHEK2
CDH1
ATM
breast
PTEN
uterine
personal notes
The OvaNext panel analyzes genes that contribute to an increased risk for ovarian, uterine and/or
breast cancer. Gene-specific associations are depicted above by cancer type. Most genes are known to
be associated with more than one cancer type including those not depicted in the diagram.
*Recent literature suggests an increased incidence of breast cancer among individuals with mutations in
the Lynch syndrome genes, MLH1, MSH2, MSH6 and PMS2.
what are the benefits
of ovanext testing?
Explaining a personal or family
history of cancer
Guiding cancer screening
and tailoring risk management
Identifying risks for
additional cancers
In some cases reducing unnecessary
screening for family members
who do not have a mutation
(in some cases)
additional considerations
family history questions
questions to consider
throughout the diagnostic process
As genetic testing is entering the
mainstream of diagnostic medicine,
certain laws have been put in place
to protect the use of patient genetic
information. The most significant
is perhaps the Genetic Information
Nondiscrimination Act (GINA) of
2008, a federal law that prevents
health insurance companies and
employers from discriminating
based on genetic information.
Was anyone in your family
diagnosed with cancer?
Does my future cancer risk vary
depending on the genetic mutation?
Relation to you
Will knowing the genetic mutation
help determine the cancer risk for
my family?
Type/location of cancer
Treatment
How will knowing the genetic
mutation change my management
options?
Did anyone undergo preventative
surgery (e.g. removal of uterus or
ovaries)? If yes, who and for what
reason?
What is the most appropriate
screening protocol for me?
what can my
genetic test reveal?
An individual undergoing genetic testing can receive
three possible results: a negative, a positive or a variant
of unknown significance.
negative
positive
variant
Disease-causing genetic
change is not identified
Disease-causing genetic
change is identified
Cancer risk is based on
personal and family history
Increased risk for cancer(s)
is gene-specific
Genetic change was identified
but current knowledge
can’t predict if the change
is disease-causing
Discuss cancer management
with physician
Discuss cancer management
with physician
Family research studies
may be recommended
Cancer risk is based on
personal and family history
Discuss cancer management
with physician
Did anyone have previous
genetic analysis? If yes, what
were the results?
When should my children begin
their screening?
will insurance cover
ovanext testing?
Ambry Genetics works closely
with insurance companies through
a pre-verification process.
For more detailed information please
visit ambrygen.com/billing
references
1.Walsh T, et al. PNAS. 2011; 108: 18032-18-37.
2.Daniels M, et al. The Can J. 2012; 18: 338-342.
3.Ballinger L. Obstet Gyn Clin N Am. 2012; 39:
165-181.
4.Groep P, et al. Cell Oncol. 2011; 34: 71-88.
5.Gage M, et al. J Sur Onc. 2012; 105: 444-451.
support groups
Support groups can build a sense
of community and aid in answering
some of the everyday questions.
These include:
ovarian.org
ovariancancer.org
lynchcancers.org
brightpink.org
facingourrisk.org
6.Ripperger T, et al. Eur J Hum Gen. 2009;
17: 722-731.
7.Pennington K, et al. Cancer. 2012;
doi: 10.1002/cncr.27720.
8.Ballinger L. Obst Gyn Clin N Am. 2012; 39:
165-181.
9.www.cancer.org
To learn more
visit ambrygen.com
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