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COLARIS

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Overview

Etiology and Clinical Features of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)


Lynch syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is the most common of the hereditary colon cancer syndromes and is believed to account for 3% to 5% of all colorectal cancers.24 Henry T. Lynch, M.D., described the features of this syndrome in 1966 while conducting familial colorectal cancer studies.62 A variety of names followed, but the term Lynch syndrome was first used in 1984 to help clarify the disease and to honor Dr Lynch’s work.62

It is now known that Lynch syndrome results from an inherited mutation in one of the mismatch repair (MMR) genes. Normally, MMR genes produce proteins that identify and correct base-pairing mismatches that can occur during DNA replication. Consequently, a mutation that inactivates an MMR gene leads to accumulation of other mutations which significantly increases the likelihood of developing cancer. Four MMR genes (MLH1, MSH2, MSH6 and PMS2) have been linked to Lynch syndrome.105,106 Germline mutations in MLH1 and MSH2 account for the vast majority of detected mutations in families with Lynch syndrome.101 Germline mutations in a fourth mismatch repair gene, PMS2, are a less common cause of Lynch syndrome.104


Recently, mutations in a gene called TACSTD1, near the MSH2 gene, have been shown to lead to Lynch syndrome; in these patients the MSH2 gene is normal however certain mutations in TACSTD1 cause no MSH2 protein to be produced.102,103

 

 

Cancer Risks

Lynch Syndrome Cancer Risks


Individuals with Lynch syndrome have an increased risk of colorectal cancer - at least 25% by age 50 and up to 82% by age 70 and a risk of up to 90% to develope some type of cancer.1,28,19,68 The risk for certain other cancers, primarily endometrial (up to 71%), ovarian (up to 12%) and gastric (up to 13%) is also increased in Lynch syndrome.  Mutation carriers previously diagnosed with cancer also have a significantly increased risk of developing a second primary (new) cancer of up to 50% within 15 years of the first diagnosis.20

Genetic testing identifies patients who have germline mutations in the genes responsible for Lynch syndrome.  This information is useful when developing risk-reducing strategies for these patients.

 

 

 

Identifying Patients

Identifying Patients at Risk for Lynch Syndrome


Finding patients at risk for Lynch syndrome and following up with them is perhaps the most critical step in potentially changing hereditary cancer outcomes.  The following "red flags"* in a patient's personal or family history may indicate an increased risk for Lynch syndrome and help identify candidates for testing.

  • Colon cancer before age 50
  • Endometrial cancer before age 50
  • 2 or more Lynch-assocaited cancers**
  • A previously identifed Lynch syndrome mutation in the family


Click HERE for quick reference cards with information on which patients may be at risk for hereditary cancer syndromes.

Click HERE to order complimentary patient videos that will help your patients better understand risks and medical management of Lynch syndrome.  The video informs patients about the cancer risks associated with the syndrome, and prompts them to ask appropriate questions to uncover a pattern of Lynch syndrome in their family history.


*Assessment criteria based on medical society guidelines.  For these individual medical society guidelines, go to www.myriadpro.com/guidelines

**Lynch-associated cancers include colon, endometrial, gastric, ovarian, ureter/renal pelvis, biliary tract, small bowel, pancreas, brain and sebaceous adenomas.

 

 

Benefits Of Testing

Benefits of COLARIS® Testing


The results of the COLARIS test enable the development of a patient-specific medical management roadmap to significantly reduce the risk of cancer.  COLARIS will allow you to:

  • Target increased surveillance and other interventions only to individuals with a Lynch syndrome mutation—maximizing patient care and increasing clinical efficiency
  • Significantly improve outcomes and reduce medical costs through earlier diagnosis and treatment of cancer, should it develop
  • Counsel patients and family members on the underlying cause of a cancer in their family
  • Avoid the cost and complications of unnecessary interventions involving family members who do not test positive for the mutation
 
Medical Management Strategies that May Reduce the Risk of Cancer 


 

 

Medical Mangement

Managing Patients with Lynch Syndrome†*


Once a diagnosis of Lynch syndrome is confirmed, the following medical management options may help reduce cancer risk or detect cancer at an earlier, more treatable stage or even prevent it.


Colon Cancer

Increased Surveillance for Colorectal Cancer

  • Colonoscopy ever 1-2 years beginning between age 20 and 25, OR 10 years before the earliest age of a patient's family member diagnosed with colorectal cancer - whichever comes first100
  • Consider annual colonoscopy after age 4024,52,53
  • For MSH6 mutation carriers consider initiating colonscopy screending at age 30 - 35 or 10 years before the earliest age of a patient's family member diagnosed with colorectal cancer.  This is due to the later average age of onset in MSH6 mutation carriers100

Surgical Management of Colorectal Cancer

  • If colon cancer is diagnosed (or more than one advanced adenoma is found) in a patient with Lynch syndrome, total colectomy with ileorectal anastomosis OR hemicolectomy is an option54,100
  • In patients unwilling or unable to undergo periodic colonscopy screening, prophylactic total colectomy with ileorectal anastomosis may be an option based on carrier status alone24,54,100

Endometrial and Ovarian Cancer

Surveillance for Endometrial and Ovarian Cancer

  • Consideration of referral to a gynecologic oncologist to discuss screening options with can include gynecologic exam, transvaginal ultrasound, endometrial aspiration and CA-125 every year, beginning between age 25 and 3524,52,83,84,100

Surgical Management of Endometrial and Ovarian Cancer

  • Prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy is a risk reducing option for women who have completed childbearing
    • May also be considered at time of colon surgery if postmenopausal or childbearing is complete100

Surveillance for Other Lynch Syndrome-Related Cancers

  • For gastric and duodenal cancer: Consider upper GI endoscopy (wide side viewing scope) at age 25 - 30 years and repeat every 1 to 3 years depending on findings
  • For urothelial cancer: Consider urinalysis on an annual basis
  • For CNS cancer: Physical examination on an annual basis


†Lynch syndome management is an evolving area.  The most up to date management guidelines can be found at National Comprehensive Network.  See the Colorectal Cancer Screening guidlines.  www.nccn.org

*Any discussion of medical management options is for general information purposes only and does not constitute a recommendation.  While genetic testing and medical society guidleines provide important and useful information, medical management decisions should be made based on consultation between each patient and his or her healthcare provider.

 

 

Sample Test Results

Listed below are examples of the possible test results for COLARIS® genetic testing. 

Comprehensive COLARIS MLH1/MSH2/MSH6 Analysis Result 

Example of a patient with no mutation detected

Comprehensive COLARIS MLH1/MSH2/MSH6 Analysis Result 

Example of a patient positive for a MLH1 gene mutation

Comprehensive COLARIS MLH1/MSH2/MSH6 Analysis Result 

Example of a patient positive for a genetic variant of uncertain significance in the MSH2 gene

Single Site COLARIS Analysis Result

Example of a patient positive for a specific mutation in the MLH1 gene

Single Site COLARIS Analysis Result

Example of a patient negative for a specific mutation in the MLH1 gene

 

 

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FAQ

COLARIS® Questions and Answers


How is the COLARIS test performed?

How long does it take for COLARIS test results?

Will a patient's health insurance cover the test?

Can a health insurance provider discriminate against a patient based on COLARIS results?

If a patient has already been diagnosed with cancer, what does a positive COLARIS result indicate?



How is the COLARIS test performed?

There are now two ways to obtain a sample from the patient for analysis.  A small amount of blood can be drawn, or an oral sample can be taken using a buccal rinse.  A sample is sent to Myriad Genetic Laboratories, Inc. for DNA sequencing analysis of MLH1, MSH2 and MSH6.  COLARIS can also detect large rearrangements in MLH1 and MSH2 that will not be identified by gene sequencing.


How long does it take for COLARIS test results?

Results usually take two weeks and are sent to the ordering healthcare provider or to a designated "mail to" provider identified on the test request form.


Will a patient's health insurance cover the test?

Most plans pay for COLARIS, with most patients paying less than 10% out of pocket.  If the patient's obligations for coinsurance or non-covered services exceed $375, Myriad will directly contact the patient within three business days of sample receipt to discuss options before performing the test.  Please note that the $375 limitation does not include unmet deductibles, which are always the patient's obligation.


Can a health insurance provider discriminate against a patient based on COLARIS results?

Federal and state governments recognize the value of genetic information to patients and doctors and have put specific legal protections in place. The Genetic Information Nondiscrimination Act or GINA adds additional protection to existing legal protections that are in place at both the federal and state levels. GINA is a federal law that protects Americans from being treated unfairly based on differences in their DNA. GINA prevents discrimination from health insurers and employers. Health insurers are prohibited from requesting or requiring an individual or family member to undergo a genetic test or requesting, requiring, or purchasing genetic information, nor can they use an individual’s genetic information in setting eligibility, premium or contribution amounts by group and individual health insurers. GINA also protects individuals  from employers requesting, requiring, or purchasing genetic information about an individual employee or family member. In addition, the employer is prohibited from using an individual’s genetic information in employment decisions such as hiring, firing, job assignments and promotions.

The Health Insurance Portability & Accountability Act (HIPAA) recognizes genetic information as Protected Health Information (PHI) and specifies protecting its confidentiality. HIPAA further states that "genetic information shall not be treated as a pre-existing condition in the absence of a diagnosis of the condition related to such information," e.g., a diagnosis of hereditary cancer. The Americans with Disabilities Act (ADA) provides additional protections regarding the use of genetic information by employers.

Almost all states have additional laws that protect people from various forms of health insurance and employment discrimination based on genetic information. For more information about how these laws apply to you, go to the National Human Genome Research Institute at:

www.genome.gov/PolicyEthics/LegDatabase/pubMapSearch.cfm


If a patient has already been diagnosed with cancer, what does a positive COLARIS result indicate?

Individuals with Lynch syndrome gene mutations are at greater risk for developing a new cancer, in either the colon, endometrium or other areas.  Knowing a patient's genetic status can help reduce this risk or detect another potential cancer at an early, more treatable stage.  Importantly, a patient's test results also have significant meaning for the health of his or her family members.