Download Lynch Syndrome Genetic Testing for Hereditary Colorectal Cancer

patient guide
Lynch Syndrome
Genetic Testing for
Hereditary Colorectal Cancer
What is Hereditary Colorectal Cancer?
Colorectal cancer is the third most common cancer in the U.S.
(it affects 1 in 20 people in their lifetime.) The majority of colorectal
cancer cases occur at older ages in people with no family history
of the disease and no genetic risk. These occurrences are called
“sporadic” cancers and happen by chance.
Although many people have a family history of cancer, the majority
of colorectal cancers are not due to inherited causes. Only about
10% of cancer is “hereditary” (due to inherited genetic causes).
People who carry these genetic changes are born with them—
they do not develop over time. Understanding if a family history
of cancer is due to inherited genetic causes can help clarify future
cancer risks and target cancer surveillance.
colorectal cancer risk breakdown
Hereditary 10%
Hereditary
There are many different
genes known to cause
hereditary colorectal
cancer.
Sporadic
70%
Familial
20%
Many families with a history of colorectal cancer do not have an
identifiable genetic cause. These “familial” cases may be due to
genes that have not yet been identified, shared factors such as
environment and lifestyle, or a combination of all of these.
Determining whether your colorectal cancer risk is higher than average due
to family history and/or genetics can help your healthcare provider make
appropriate recommendations for cancer screening and prevention.
what is your risk for colorectal cancer?
Risk assessment by a healthcare provider can help define your
chance of developing colorectal cancer.
- A person with no family history of colorectal cancer most likely has
“sporadic” or average risk. The average risk of developing colorectal
cancer is about 5% over a lifetime.
- For someone who has a family history of colorectal cancer,
genetic testing may be indicated to help determine if he/she has
a moderately increased “familial” risk or a high “hereditary” risk of
developing colorectal cancer.
- If someone has had colorectal cancer, genetic testing may be
indicated to help determine if he/she has an increased risk for
additional colorectal and other cancers.
What is Lynch syndrome?
Lynch syndrome is the most common cause of hereditary
colorectal cancer. It is caused by mutations (changes) in the
MLH1, MSH2, MSH6, PMS2 and EPCAM genes. People with
Lynch syndrome have an increased risk for cancers of the colon
(large intestine), rectum, uterus (endometrium), ovaries, stomach,
small bowel and other areas.
lynch syndrome lifetime cancer risks (%)*
Up To 82%
General Population
25-60%
Up to
5.5%
Colon
Cancer
Up to
2.7%
Uterine
Cancer
Lynch syndrome
6-13%
<1%
Stomach
Cancer
4-12%
<1%
Ovarian
Cancer
<1%
3-6%
Small Bowel
Cancer
There are also increased risks (<10%) for hepatobiliary tract cancer, upper urinary tract cancer, brain cancer,
pancreatic cancer and sebaceous neoplasms.
* Recent data suggests lower risks for MSH6 & PMS2 carriers.
is lynch syndrome genetic testing indicated for you?
Genetic testing may be indicated if you have a personal history and/or
family history of any of the following:
Colorectal or uterine cancer
diagnosed younger than 50
More than one Lynch syndrome
cancer in the same person (ex.
colon & uterine cancer or 2
separate colon cancers)
Uterine and/or ovarian cancer
with a family history of
gastrointestinal cancers*
Three or more cases of
colorectal, uterine, ovarian or
other Lynch syndrome cancers*
Known Lynch syndrome
mutation in the family
Abnormal MSI and/or
IHC tumor testing results
(MSI and IHC are specialized tumor
tests that screen for the possibility of
Lynch syndrome.)
*on the same side of family
potential genetic test results & implications
positive
negative
A gene change
(“mutation”) was
found in one of the
genes tested.
No changes, or
mutations, were found
in any of the genes
tested.
There is an increased
risk for certain
cancer(s) specific to
the gene mutation.
Cancer risk(s) are
specific to the family
history of cancer.
Cancer screening
and prevention
recommendations will
be provided by your
clinician(s) based on
the genetic test result.
Genetic testing will
be recommended for
family members.
inconclusive
A genetic change was
found but it is unclear
if this change is benign
or increases risk for
cancer.
Cancer risk(s) are
specific to the family
history of cancer.
Cancer screening and
prevention
recommendations will
be made by your
clinician(s) based on
the family history of
cancer.
Cancer screening
and prevention
recommendations
will be made by your
clinician(s) based on the
family history of cancer.
Genetic testing most
likely will not be
recommended for other
family members.
Genetic testing most
likely will not be
recommended for
other family members.
recommendations for individuals with lynch syndrome
Colorectal Cancer Management
1. C
olonoscopy every 1-2 years starting at age 20-25 or 2-5 years prior to the
earliest colorectal cancer diagnosis in the family (if diagnosed before age 25)
Uterine and Ovarian
Cancer Management
1. Consider risk-reducing hysterectomy
and bilateral salpingo-oophorectomy
after childbearing
2. Office endometrial sampling
and transvaginal ultrasound with
CA-125 are options that may be
used at your healthcare provider’s
discretion, though there is no clear
data to support these screenings
Additional Cancer Management
1. Consider upper endoscopy with
duodenoscopy every 3-5 years starting
at age 30-35, especially for individuals
of Asian descent
2. Consider annual urinalysis starting
at age 25-30
3. Annual physical exam
4. Other recommendations may be made
at your healthcare provider’s discretion
recommendations for individuals with no mutation
For individuals with a personal history of colorectal or other cancer, follow stage
appropriate care and follow-up.
For individuals with a family history of colorectal cancer (no personal history):
- Colonoscopy more frequently than every ten years may be recommended by
your healthcare provider
- Colonoscopy screening starting younger than age 50 (the typical age to begin
colon screening) may be recommended by your healthcare provider
If there is a known Lynch syndrome mutation in the family and you test negative,
general colon screening is most likely appropriate.
If there are other types of cancers in the family, other screening and prevention
options may be appropriate, specific to cancers in the family.
common questions about genetic testing
q1. will genetic testing be covered by my insurance?
When individuals meet the criteria described on page 3, genetic testing is
typically covered, and most patients have coverage at 90 or 100%. Ambry
Genetics works closely with insurance companies through a coverage
verification process. If out-of-pocket costs are anticipated to be greater
than $100, you will be contacted before the test is started.
q2. how does genetic testing work?
The genetic test is done using a blood or saliva sample. Your sample
is collected using a special kit which is shipped overnight to Ambry
Genetics Laboratory (this is all coordinated by your healthcare provider).
Once your sample arrives at Ambry, the genes ordered by your healthcare
provider are analyzed. The genetic test is looking for any mutations that
make the gene non-functional and cause an increased risk for cancer.
Genetic testing must be ordered by a healthcare provider and should be
accompanied by pre- and post-test education/counseling so that you
understand the test and its implications for you and your family.
q3. can genetic test results be used against me?
The Genetic Information Non-Discrimination Act of 2008 (GINA)
is a federal law that prohibits discrimination by health insurance
companies and employers based on genetic information. Your state
may have additional, more comprehensive laws in this area. Additionally,
Ambry Genetics only provides genetic test results to
your ordering healthcare provider.
q4. if I have already had cancer, do I need genetic testing?
Genetic testing for Lynch syndrome is most informative when first
performed in a family member who has already had a cancer potentially
related to Lynch syndrome. Test results can provide an explanation for
why the cancer occurred, and more importantly, can provide information
about future cancer risks. Genetic test results can change your ongoing
medical management and can help your family members understand their
risk of developing cancer.
test result and recommendations
(To be completed by you and your healthcare provider when you receive your
genetic test results and medical management recommendations)
test result
No Mutation Detected
Positive for a mutation in ___________________ gene
Variant of unknown significance in ________________________ gene
recommendations for you
recommendations for family members
Genetic testing not indicated for family members
Genetic testing recommended for family members
support groups
Support groups can build a
sense of community and aid in
answering some of the everyday
questions.
The Colon Club
colonclub.com
Hereditary Colon
Cancer Foundation
hcctakesguts.org
Lynch Syndrome International
lynchcancers.com
Kintalk
kintalk.org
Colon Cancer Alliance
ccalliance.org
Fight Colorectal Cancer
fightcolorectalcancer.org
about ambry
Innovation: Ambry is a leading
provider of diagnostic genetic
testing, with years of
experience using
next-generation sequencing
technologies.
Expertise: Since 2001, Ambry
has performed hundreds of
thousands of genetic tests and
identified more than 45,000
mutations in greater than 500
different genes.
15 Argonaut
Aliso Viejo, CA 92656
(866) 262 7943
To learn more
visit ambrygen.com
other resources
Find a Genetic Counselor
nsgc.org
Genetic Information
Non-Discrimination Act
Information
ginahelp.org
D0314-09-177-MKG-00