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COLARIS AP

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Overview

Etiology and Clinical Features of Adenomatous Polyposis Syndromes


The most common adenomatous polyposis conditions are thought to account for approximately 2% of all colon cancer.108,109  They can be categorized into three conditions: familial adenomatous polyposis, attentuated familial adenomatous polyposis and MYH-associated polyposis.

Classic familial adenomatous polyposis (FAP) and attentuated familial adenomatous polyposis (AFAP) are due to mutations in the adenomatous polyposis coli (APC) gene.  The APC gene is a tumor suppressor gene which regulates cellular growth and proliferation.  Both FAP and AFAP are inherited in an autosomal dominant manner.  MYH-associated polyposis (MAP) is caused by mutations in the mutY homolog (MYH) gene.  MAP is inherited in an autosomal recessive manner.  Individuals with MAP have mutations in both of their MYH genes (one from each parent, often referred to as "biallelic MYH mutations").  Patients often have no family history of colon cancer or polyps in parents (although siblings may be affected).58  The MYH gene is an important part of the base excision repair (BER) pathway, which allows for repair of DNA mutations caused by oxidative damage to cells.

When assessing hereditary cancer risk, a patient's personal and family history is collected to investigate the risk for a polyposis syndrome.  Once a patient is identified as being at increased risk for one of these syndromes, genetic test results provide the most accurate means of cancer risk assessment for a patient.  It is important to note that approximately 20% to 30% of FAP cases are caused by new mutations, meaning that an APC germline mutations may be present in an individual even if it is absent in both parents.31  Also, due to the autosomal recessive inheritance pattern of MAP, many affected patients have no relatives with colorectal polyps or cancer.58  Genetic testing is the only way to identify truly at-risk family members.

 

 

Cancer Risks

Adenomatous Polyposis Syndromes Cancer Risks


Patients testing positive for an APC gene mutation have up to a 100% lifetime risk of developing colorectal cancer.26 Specific risk percentages appear below.


Cancers Associated with FAP and AFAP

 

 

 

Identifying Patients

Identifying Patients at Risk for Adenomatous Polyposis Syndromes


Genetic testing for germline mutations in APC or MYH genes is used to identify patients with adenomatous polyposis syndromes.  Those who should be offered genetic testing include:32


  • Individuals clinically affected with FAP (100 or more colorectal adenomas)
  • Individuals with multiple colorectal adenomas (usually 10 or more cumulative adenomas)
  • Relatives of APC or MYH mutation carriers

Genetic testing will allow you to accurately identify patients with adenomatous polyposis syndromes and plan their medical management accordingly.


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 materials that will help your patients better understand risks and medical management of adenomatous polyposis syndromes. These materials inform patients about the cancer risks associated with the syndrome, and prompts them to ask the appropriate questions to uncover a pattern of adenomatous polyposis syndromes in their family history.
 

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

 

 

Benefits Of Testing

Benefits of COLARIS AP® Testing


COLARIS AP uses the most sensitive and specific methods of analysis to identify adenomatous polyposis syndromes (FAP, AFAP, and MAP). In addition to facilitating a proactive management approach with identified at-risk patients, COLARIS AP genetic testing enables you to:

  • Target increased surveillance and other interventions only to individuals with the APC or MYH gene mutations—maximizing patient care and increasing clinical efficiency
  • Counsel patients and family members on the underlying cause of the cancer
  • Avoid unnecessary interventions involving family members who do not test positive for the mutation(s)
  • Proactively treat patients due to the near certainty of mutation carriers developing cancer
  • Differentiate between AFAP, MAP, and Lynch syndrome
  • Significantly improve outcomes and reduce medical costs through early diagnosis and treatment of cancer, should it develop
    • An individual’s risk for developing colorectal cancer can be reduced by nearly 100% with appropriate preventive measures in FAP26

 

 

Medical Mangement

Managing Patients with Adenomatous Polyposis Syndromes


It is possible to change the outcome for patients who have adenomatous polyposis syndromes. If a COLARIS AP® test result confirms the presence of adenomatous polyposis syndromes, the following medical management options may help reduce or even eliminate the risk of cancer.


Familial Adenomatous Polyposis (FAP)

Increase Surveillance:

  • Annual flexible sigmoidoscopy beginning between ages 10 and 1224
  • Following a prophylactic subtotal colectomy, flexible sigmoidoscopy of remaining ileal pouch and rectal epithelium every 6 months to 3 years, depending on number of polyps found on previous exam31,41
  • Esophagogastroduodenoscopy (EGD) every 1 to 4 years (depending on polyp burden), beginning between age 20 and 2552
  • Annual physical exam, including palpation of the thyroid, beginning between age 10 and 1252

Chemoprevention:

  • Research to determine the effectiveness of NSAIDS in colorectal polyp development is currently being conducted
  • The FDA has approved some NSAIDS to help prevent polyp formation in the rectum after a total colectomy, but none of these drugs are proven to reduce or prevent polyps prior to surgery

Surgical Management

  • Prophylactic total colectomy is advised following development of adenomatous polyps54

Note: Screening for other FAP/AFAP-associated cancers may be considered, depending on family history.


Attentuated FAP (AFAP)

Increased Surveillance:

  • Colonoscopy every 1 to 3 years, beginning in late teens or mid-twenties53
  • Esophagogastroduodenoscopy (EGD) every 1 to 4 years (depending on polyp burden), beginning between age 20 and 2552

Surgical Management:

  • Prophylactic colectomy, though it may not be necessary for an APC-positive patient, should be considered on an individual basis24

Note: Screening for other FAP/AFAP-associated cancers may be considered, depending on family history.


MYH-Associated Polyposis (MAP):

  • Since screening recommendations for MAP are not yet established, it is recommended that patients with MAP follow screening guidelines for FAP or AFAP, depending on individual polyp burden56 

 

Screening Recommendations for Extracolonic Manifestations of FAP and AFAP

 


*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 AP® genetic testing.

Comprehensive COLARIS AP APC Analysis and MYH Mutation Panel Result
Example of a patient positive for two copies of an MYH mutation
Comprehensive COLARIS AP APC Analysis and MYH Mutation Panel Result 
Example of a patient with no mutation detected

Comprehensive COLARIS AP APC Analysis and MYH Mutation Panel Result

Example of a patient positive for an APC mutation

Comprehensive COLARIS AP APC Analysis and MYH Mutation Panel Result

Example of a patient with a genetic variant of uncertain significance in the APC gene

Comprehensive COLARIS AP MYH Analysis Result

Example of a patient with no mutation detected

Comprehensive COLARIS AP MYH Analysis Result

Example of a patient positive for one MYH mutation

Single Site COLARIS AP Analysis Result
Example of a patient negative for a specific mutation in the APC gene

Single Site COLARIS AP Analysis Result

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

 

 

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FAQ

COLARIS AP® Questions and Answers


How is the COLARIS AP test performed?

How long does it take for COLARIS AP test results?

Will a patient's health insurance cover the test?

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

If a patient has already been diagnosed with FAP or AFAP, what does a positive COLARIS AP results indicate?


 

How is the COLARIS AP test performed?

A small amount of blood is drawn from the patient and sent to Myriad Genetic Laboratories, Inc. for DNA sequencing analysis of the APC and MYH genes.  COLARIS AP can also detect large rearrangements in the APC gene that will not be identified by gene sequencing.


How long does it take for COLARIS AP  test results?

Results usually take two weeks and are sent to the provider identified as "mail to" on the Test Request Form.


Will a patient's health insurance cover the test?

Most plans pay for COLARIS AP, 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 the sample receipt to discuss options before performing the test.  Please note that the $375 limitation does not include any unmet deductibles, which are always the patient's obligation.


Can a health insurance provider discriminate against a patient based on COLARIS AP 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:
http://www.genome.gov/PolicyEthics/LegDatabase/pubMapSearch.cfm.


If a patient has already been diagnosed with FAP or AFAP, what does a positive COLARIS AP result indicate?

Individuals with an APC mutation are at a greater risk for developing a new cancer - even extracolonic cancer following a prophylactic colectomy.  Knowing a patient's genetic status can help reduce this risk or detect another potential cancer at an earlier, more treatable stage.  Importantly, a patient's test results also have significant meaning for the health of his or her family members, especially since FAP is characterized by juvenile onset.  In addition, patients clinically diagnosed with FAP or AFAP may have mutations in their MYH genes, leading to a condition called MAP, which presents different risks to family members.  Genetic testing cane help distinguish between MAP and FAP/AFAP in certain families.