Hereditary Cancer Testing: Is it Right for You?
This workbook is designed to help you decide if hereditary cancer testing is right for you and should be completed with a trained healthcare provider.
Introduction
Most cancer occurs by chance (also called sporadic). In some families we see more Familial cancer than we would expect by chance alone. Determining which of these families have cancer related to an inherited gene Hereditary mutation is important, as the cancer risks in hereditary cancer families are much higher Sporadic than the general population.
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2 Personal and Family History
Check all that apply: q Colorectal cancer before age 50 q Relative with APC or MYH gene q Colorectal cancer after age 50 mutation(s) 1 q Colorectal adenomatous polyp(s) q Other FAP/AFAP-related cancers Number: Age: q Other features of FAP/AFAP2 q More than one colorectal cancer q Other: in the same individual Adenomatous polyposis syndromes are inherited conditions that are associated with the development of multiple polyps in the colon and rectum. Usually, mutations in the APC gene lead to familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). Mutations in both copies of the MYH gene are the cause of MYH-associated polyposis (MAP). In FAP, ≥100 colorectal polyps are seen. Patients with AFAP and MAP usually have 10 or more polyps, but these conditions have been diagnosed in patients with less than 10 polyps. In some cases, MAP can appear with hundreds of polyps, similar to FAP. Mutations in the APC and MYH genes can be inherited from your mother and/or your father. Some individuals with adenomatous polyposis syndromes will not have a family history of colon polyps.
1 duodenal, pancreas, thyroid, stomach, brain and/or hepatoblastoma 2 desmoids, osteomas, epidermoid cysts, lipomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), gastric fundic gland polyps Cancer Risks for APC Mutation Carriers
Mutation General Carrier Risk Population Risk1 Colorectal cancer in FAP ~100% 2% Colorectal cancer in AFAP 80%-100% 2% Duodenal cancer 5%-12% NA2 APC mutation carriers have a slightly elevated risk over the general population of developing cancers of the pancreas, thyroid, stomach, and brain. Liver cancer risk in children is also increased. Due to the multiple polyps in MAP, colorectal cancer risk is likely increased, although the exact risk is unknown at this time. Risks for other cancers are unknown as well. 1 Risk by age 70 2 Not available 3 Managing Risk for APC Mutation Carriers
INCREASED SURVEILLANCE Site Procedure Age to Begin Repeat Test Colon-FAP Sigmoidoscopy 10-12 years Annually Late teens or early 20s (depending on age of Colon-AFAP Colonoscopy 1-3 years polyp development in the family) Endoscopy of 6 months to 3 years Colon-After remaining rectum or After colon surgery (depending on number of colon surgery ileal pouch polyps on previous exam) EGD (examination of Duodenum and the esophagus, 20-25 years 1-4 years stomach stomach and duodenum) Physical exam and Thyroid consideration of 10-12 years Annually ultrasound Screening for other FAP/AFAP-related cancers (brain, pancreatic, and liver) may be considered. Please speak to your healthcare provider. SURGICAL MANAGEMENT • FAP—Preventive removal of the colon and rectum is recommended. The timing of surgery is based on the number/size of polyps. • AFAP—Preventive removal of the colon and the rectum depending on the number of polyps. CHEMOPREVENTION • Drugs may be used to reduce the number of polyps in any rectum that remains after colon surgery.
Management of patients with MYH mutations should be similar to that of patients with FAP or AFAP—no specific guidelines for MAP have been established.
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4 Testing Options
There are two types of tests to look for APC and MYH mutations: COMPREHENSIVE ANALYSIS q Comprehensive COLARIS AP® APC Full sequence and large rearrangement analysis of the APC MYH Y165C G382D gene and a mutation panel of the MYH gene. SINGLE SITE ANALYSIS q Single Site COLARIS AP® Mutation-specific analysis for individuals with known APC or MYH gene mutation(s) in the family. q Other:
Possible Test Results
Positive Result Increased Cancer Risk Medical management based on recommendations for mutation carriers A mutation has been previously identified in the family No Increased Cancer Risk (Single Site Analysis) Medical management based on Negative Result general population cancer screening recommendations No mutation has been previously identified in the family Cancer Risk Not Fully Defined (Comprehensive Analysis) Medical management based on personal and family history of polyps and cancer Uncertain Variant Cancer Risk Not Fully Defined Medical management based on personal and family history of polyps and cancer
5 It’s a Family Affair
• APC and MYH mutations are passed on in a family.
u If you have mutations in either of these genes, your parents, your children, and your brothers and sisters may also have the same mutation.
u Other relatives may be at risk to carry the same mutation(s). • Testing is the only way to accurately identify mutation carriers. • It is important to share genetic test results with family members.
Benefits and Limitations
Personalized risk assessment Like all medical tests, Appropriate medical genetic testing does not management to help detect all causes of Benefits reduce cancer risk Limitations hereditary cancer Important information A negative result is most for family members helpful when there is a known mutation in the family Reduces anxiety and stress Some genetic variants are of unknown clinical significance
Individuals may differ in their viewpoints and reactions to hereditary cancer testing.
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6 Health Care Coverage
• Insurance coverage for genetic testing is excellent, with the majority of patients covered for testing and paying a coinsurance of less than 10%. In fact, most patients have NO out-of-pocket costs for genetic testing services.
Privacy
• A federal law known as HIPAA protects individuals in group health insurance plans by prohibiting the use of genetic test results to determine eligibility or rates/cost of health insurance. Most states have additional laws that protect patients from genetic discrimination. • Some individuals have questions about health insurance discrimination. State and Federal laws prohibit health insurance discrimination based on genetic information.
Next Steps: q Pursue testing q Schedule follow-up appointment for results disclosure Date: Time: q Decline testing-Medical management based on personal and family history of cancer q Undecided
Who to contact with questions:
7 Additional Resources:
Colorectal Cancer Network Colon Cancer Alliance A support network for individuals and The Colon Cancer Alliance (CCA) is a families touched by colon cancer that national patient advocacy organization promotes awareness, screening, and dedicated to ending the suffering caused early detection programs as well as by colorectal cancer. legislative actions. 1-877-422-2030 (toll free) 1-301-879-1500 www.ccalliance.org www.colorectal-cancer.net Myriad Genetic Laboratories, Inc. 1-800-4-MYRIAD www.myriadtests.com E-mail: [email protected]
This brochure meets Oncology Nursing Society guidelines for quality educational content. ONS endorsement does not constitute medical advice. Healthcare providers should exercise their own independent medical judgment.
Myriad Genetic Laboratories, Inc. 320 Wakara Way Salt Lake City, UT 84108-9930
Myriad, the Myriad logo, and COLARIS AP are either trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and other jurisdictions.
THIS INFORMATION IS PROVIDED TO HELP ANSWER SOME OF YOUR QUESTIONS WITH RESPECT TO CANCER RISKS, HEREDITARY CANCER RISKS, AND PRE- DISPOSITIONAL CANCER TESTING. IT IS GENERAL IN NATURE AND IS NOT INTENDED TO PROVIDE A DEFINITIVE ANALYSIS OF YOUR SPECIFIC RISK FACTORS FOR CANCER OR YOUR HE- REDITARY CANCER RISKS. YOU SHOULD NOT RELY ON THE INFORMATION PROVIDED HEREIN; BUT RATHER, YOU SHOULD CONSULT WITH YOUR DOCTOR OR A QUALIFIED HEALTHCARE PROFESSIONAL TO REVIEW THIS INFORMATION ALONG WITH YOUR INDIVIDUAL HEALTH CONDITIONS AND RISK FACTORS. ©2004-08, Myriad Genetic Laboratories, Inc. CAPET/0508