Does Cancer Run in Your Family?

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1 Does Cancer Run in Your Family? A Patient s Guide to Hereditary Breast and Ovarian Cancer Syndrome

2 What is Hereditary Cancer? Most cancers occur in people who do not have a strong family history of that cancer. This is often called sporadic cancer. In some families, we see more of the same kind, or related kinds of cancer than we would expect to see when compared to the general population. This is often called familial or hereditary cancer. In those families with hereditary cancer, that cancer risk is passed down through generations by inheriting altered genes (in other words, genes with mutations) which increase the risk of developing cancer. Determining which of these families have cancer related to an inherited gene mutation is important, as the cancer risks in hereditary cancer families are frequently much higher than the general population. 2

3 Hereditary Cancer Occurs when an altered gene (gene with a mutation) is passed down in the family from parent to child. People with hereditary cancer are more likely to have relatives with the same type or other types of cancer. They may develop more than one cancer and their cancer often occurs at an earlier than average age. Familial Cancer Likely caused by a combination of genetic and environmental factors. People with familial cancer may have one or more relatives with the same type of cancer; however, there does not appear to be a specific pattern of inheritance (e.g., the cancer risk is not clearly passed from parent to child). Sporadic Cancer Occurs by chance. People with sporadic cancer typically do not have relatives with the same type of cancer. Hereditary Cancer Familial Cancer Sporadic Cancer 3

4 Personal or Family History of Breast and Ovarian Cancer Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an inherited condition that causes an increased risk for ovarian, breast, pancreatic and prostate cancer. The majority of hereditary breast and ovarian cancer is due to an alteration or gene mutation in either the BRCA1 or BRCA2 genes. These gene mutations can be inherited from either your mother or father. You could have an inherited risk for HBOC if any of below applies to you or your family member:** Ovarian (peritoneal/fallopian tube) cancer at any age Breast cancer diagnosed at or before age 50 Two or more primary breast cancers* Male breast cancer at any age Triple Negative Breast Cancer (ER-, PR-, HER2- pathology) Ashkenazi Jewish ancestry with an HBOC-associated cancer*^ Three or more HBOC-associated cancers at any age*^ A previously identified HBOC syndrome mutation in the family * In the same individual or on the same side of the family ** Family members include first, second, and third-degree blood relatives on both your mother and father s sides ^ HBOC-associated cancers include breast (including DCIS), ovarian, pancreatic, and aggressive prostate cancer (Gleason score of >7) 4

5 Cancer Risks for People Who Have a BRCA Gene Mutation * General Population BRCA Positive % % 63% BREAST BY AGE 50 20% 7.3% <2% 2% <1% BREAST BY AGE 70 2ND BREAST within 5 yrs of first breast cancer Dx OVARIAN BY AGE MALE BREAST BY AGE 70 20% <7% 8.2% <1% PROSTATE BY AGE 70 1% 7% PANCREATIC BY AGE 80 * For the most-up-to-date general population, gene-associated cancer risks, management criteria and other syndrome-related cancers not listed here, refer to the Gene Table located at 5

6 BRACAnalysis Testing For Hereditary Breast & Ovarian Cancer BRACAnalysis is for individuals at risk for hereditary breast or ovarian cancer. It does not tell you whether you have cancer, but detects mutations in the BRCA1 and BRCA2 genes. These are the gene mutations that are responsible for the majority of hereditary breast and ovarian cancer. If you and your provider decide that BRACAnalysis is right for you, a small blood or saliva sample is taken and shipped directly to Myriad Genetic Laboratories. Results can be obtained in about 7-10 days from your provider. The BRACAnalysis test results may enable you and your family to make more informed choices and also help your doctor or other providers manage your health care needs more effectively. BRACAnalysis Testing Options to be discussed with your health care provider: Integrated BRACAnalysis Testing. Comprehensive examination of the most relevant regions in the BRCA1 and BRCA2 genes and large rearrangement analysis. This test is for people who do not have a known BRCA1 or BRCA2 gene mutation in the family. Single Site BRACAnalysis. This test is for individuals who already know a BRCA1 or BRCA2 gene mutation is in the family. Before taking this test, you must find out the name of the gene mutation from family members who have tested positive. Mutisite 3 BRACAnalysis. This test examines three specific BRCA1 and BRCA2 mutations that explain the vast majority of HBOC syndromes in individuals with Ashkenazi (Eastern European) Jewish ancestry. BRACAnalysis Large Rearrangement Test (BART). There are some less common gene mutations that can only be found using a test called the BRACAnalysis Large Rearrangement test (BART). BART is included when integrated BRACAnalysis is ordered. BART testing alone may be appropriate for patients who previously received Comprehensive BRACAnalysis testing, which did not include BART. Integrated BRACAnalysis with Myriad myrisk Hereditary Cancer. This is a multi-gene test that analyzes not only BRCA1 and BRCA2 genes for HBOC, but also examines additional genes associated with other hereditary cancer risk. Your doctor will decide based on your personal and family history which test is right for you. 6

7 Possible Genetic Test Results Positive Result A CLINICALLY SIGNIFICANT MUTATION HAS BEEN IDENTIFIED - Increased cancer risk, medical management based on recommendations for people who have the BRCA1 or BRCA2 gene mutations Negative Result NO GENE MUTATION HAS BEEN PREVIOUSLY IDENTIFIED IN THE FAMILY (comprehensive analysis) Chance of HBOC significantly reduced, medical management based on personal or family history of cancer OR A GENE MUTATION HAS BEEN PREVIOUSLY IDENTIFIED IN THE FAMILY (Single Site / Multisite 3 Analysis) - No increased cancer risk, medical management based on general population cancer screening recommendations Variant of Uncertain Significance (VUS) NO CLINICALLY SIGNIFICANT MUTATION DETECTED IN THE GENES THAT WERE TESTED A change has been identified in the DNA, but it is not currently associated with an increased cancer risk, medical management based on personal and family history of cancer 7

8 Managing Hereditary Breast and Ovarian Cancer Risk Increased Surveillance 1,2,3 Breast awareness starting at age 18 Clinical breast exam starting at age 25 every 6-12 months Annual breast MRI and/or mammography starting at age 25 Annual mammography AND MRI starting at age 30 or individualized based on earliest case in the family Consideration of transvaginal ultrasound and CA125 starting at age after consultation with your clinician Chemoprevention Tamoxifen use has been associated with a reduction of 53% in the risk of a second primary breast cancer in contralateral cancers 4 Oral contraceptives, when taken for 6 or more years, have been associated with a reduction of up to 60% in the risk of ovarian cancer 5 Preventive Surgery Prophylactic mastectomy reduces breast cancer risk by at least 90% 6 Prophylactic oophorectomy reduces ovarian cancer risk by up to 96% and breast cancer risk by up to 68% 7,8 It s a Family Affair If you have a gene mutation, your parent, your children and your brothers and sisters could have a 50% chance of having the same gene mutation. Other relatives such as aunts, uncles, and cousins may also be at risk to carry the same gene mutation. Testing is the only way to identify gene mutations which could impact your medical management. Remember, you can inherit a gene mutation from either your mother or your father, so it is important to look at both sides of your family. 8

9 Next Steps: Pursue testing by giving blood or saliva sample Decline testing- Medical management based on personal and family history of cancer Undecided/talk to family Questions? Contact: Frequently Asked Questions: Who is Myriad? With over 25 years of experience and more than 1.6 million people tested, Myriad is the established leader in the field of hereditary genetic testing. Myriad s genetic tests are known for quality and accuracy. The extensive knowledge base, a highly specialized professional staff, and the commitment to support healthcare providers make Myriad the unquestioned leader in genetic testing for hereditary cancer. What is Myriad s lifetime commitment? Myriad performs ongoing investigations and research on all findings. Your health care provider will be contacted if and when new genetic information is found that could affect your medical management. Patients who were previously tested by Myriad may benefit from test updates to adjust their personal cancer risk-reduction plans. Can my health insurance coverage be impacted by the results? The Genetic Information Non-Discrimination Act (GINA) and laws in most states prohibit discrimination regarding employment eligibility, health benefits, or health insurance premiums solely on the basis of genetic information. For information about Myriad s privacy policy, please visit: myriad.com/patients-families/themyriad-difference/your-privacy. Will my health insurance pay for my testing? Most insurance carriers cover genetic testing services for hereditary cancer. In fact, most appropriate patients pay $0. Myriad helps you receive the appropriate coverage from your plan. Please read the important information about the Myriad Promise on the next page. What is an explanation of benefits (EOB)? Your insurance company sends you an EOB to explain any health care services paid by your plan to your service provider. It is not a bill and does not require a payment. 9

10 Financial Support & Flexibility BECAUSE PATIENTS and their families use test results to make life saving medical decisions, Myriad promises to provide affordable access to testing, a lifetime commitment to accurate results, and comprehensive support for ALL appropriate patients and their families. When one of our tests is ordered for you, we will work with your insurance provider to help you get the appropriate coverage allowed by your plan. Coverage is excellent: Average patient out-of-pocket is $54 3 out of 4 patients pay $0 97% of private insurance companies have coverage for hereditary cancer testing BRCA testing qualifies as a preventive healthcare service under the Affordable Care Act signed into law in 2010 for unaffected women with a qualifying family history under all nongrandfathered insurance plans. 9,10,11,12,13 You may qualify for Myriad s Financial Assistance Program (MFAP) if you meet certain medical and financial criteria. If you encounter ANY financial hardship associated with your bill, Myriad will work with you toward your complete satisfaction, GUARANTEED. If you have questions regarding your Myriad bill or insurance Explanation of Benefits, please contact Myriad rather than your health care provider. Myriad is here to help: 844-MYRIAD9 ( ) or billinghelp@myriad.com. Learn more at MyriadPromise.com 10

11 The mysupport360 Community Helps guide patients and their family members through the genetic testing process Provides valuable information along the way and serves as an avenue to hear from others who are facing the same decisions Your health care provider is always your number one resource. You are also invited to visit mysupport360.com. Whether you are undertaking the hereditary cancer testing journey for yourself, a loved one, or a friend, mysupport360 will help keep you informed, proactive and confidently prepared throughout the process. Learn more at mysupport360.com 1. For the most up-to-date general population, gene-associated cancer risks, management criteria, and other syndrome-related cancers not listed here refer to the Gene Tables located at Risks are for patients who have never had cancer. Patients with hereditary risk may have increased risk for other syndrome related cancers. 2. NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Screening and Diagnosis. V Hereditary Breast and Ovarian Cancer Syndrome, Practice Bulletin No American College of Obstetricians and Gynecologists. Obstet Gynecol 2009;113:957 66, reaffirmed Gronwald, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2006; 118(9): Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer. N Engl J Med. 1998;339: Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer. N Engl J Med. 1998;339: Hartmann LC, et al. Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutation carriers. Proc Am Assoc Ca Res. 2000;41: Rebbeck TR, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346(21): Kauff ND, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. NEJM <2002;346: Health Resources Services Administration. Women s Preventive Services: Required Health Plan Coverage Guidelines. Available at accessed 5/10/ United States Department of Labor. FAQs about Affordable Care Act Implementation Part XII. Available at: accessed 5/10/ USPSTF A and B Recommendations. U.S. Preventive Services Task Force. October Available at: accessed 5/10/ Final Recommendation Statement: BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. U.S. Preventive Services Task Force. December Available at: Document/RecommendationStatementFinal/brca-related-cancer-risk-assessment-geneticcounseling-and-genetic-testing accessed 5/10/ Grandfathered health insurance plans. Available at: accessed 5/10/16 11

12 Hereditary Cancer Testing Provided by: Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT Myriad, the Myriad logo, Myriad myrisk, the Myriad myrisk logo, Myriad Promise, the Myriad Promise logo, mysupport360, and the mysupport360 logo are either trademarks or registered trademarks of Myriad Genetics Inc. in the United States and other jurisdictions. 2016, Myriad Genetic Laboratories, Inc. MGHBOCPET / 6-16

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