Pancreatic Cancer. Hereditary Pancreatic Cancer A Guide for Patients KNOWING WHAT TO LOOK FOR KNOWING WHERE TO LOOK AND KNOWING WHAT IT MEANS

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1 Pancreatic Cancer Hereditary Pancreatic Cancer A Guide for Patients KNOWING WHAT TO LOOK FOR KNOWING WHERE TO LOOK AND KNOWING WHAT IT MEANS

2 Hereditary Pancreatic Cancer What is hereditary pancreatic cancer? Pancreatic cancer occurs when normal cells in the pancreas begin to grow uncontrollably, forming a mass called a tumor. Pancreatic cancer is a rare cancer, occurring in approximately 1 out of every 70 (1.5%) individuals in the general population. While the majority of pancreatic cancer is not inherited, it is estimated that up to 10% of all cases of pancreatic cancer are associated with a change, or mutation, in a gene that can be passed down from generation to generation. This is referred to as hereditary pancreatic cancer. In addition to pancreatic cancer, individuals who carry a genetic mutation associated with hereditary pancreatic cancer may also have an increased risk for other types of cancer such as breast cancer, ovarian cancer, melanoma (skin cancer), colorectal cancer, endometrial (uterine) cancer, stomach cancer, and kidney cancer. How is pancreatic cancer inherited? Most genes that cause a hereditary form of cancer are inherited in an autosomal dominant manner. Genes provide the instructions for normal cell growth and development. Each of us has two copies of our genes, one copy that we get from our mother and one copy from our father. In a dominant condition, a mutation in just one copy of the gene can lead to symptoms of the condition, in this case, an increased risk of cancer. Since we only give half of our genetic information to our children, if a person has a dominant condition, there is a chance to pass down the genetic mutation to each Autosomal Dominant Unaffected father Affected Unaffected Affected son Unaffected daughter Affected mother Unaffected son Adapted from U.S. National Library of Medicine Affected daughter PATIENT GUIDE FOR HEREDITARY PANCREATIC CANCER 1

3 child, male or female. Siblings of an individual with a mutation also have up to a 50% chance to have the same disease-causing mutation. The risk for other family members to carry the same genetic mutation depends on how closely related they are to an affected individual. It is important to remember that not all people who inherit a mutation in one of their genes will develop cancer. However, the chance to develop cancer will be greater if a person inherits a mutation in a cancer-related gene. What syndromes are commonly associated with hereditary pancreatic cancer? Hereditary pancreatic cancer is associated with multiple hereditary cancer syndromes, and some of these are rare. One of the better-known hereditary pancreatic cancer syndromes is Familial Atypical Multiple Mole/Melanoma syndrome (FAMMM). People with FAMMM typically have many (more than 50) atypical dark moles on their skin (melanocytic nevi), and have an increased risk of developing melanoma (skin cancer) and pancreatic cancer. Studies suggest that up to 28% of families with a mutation in the CDKN2A gene, which causes FAMMM, have one or more individuals affected by pancreatic cancer. The lifetime risk of developing pancreatic cancer in FAMMM has been reported to be 17% by age 75. The lifetime risk of developing melanoma is 28-76%. Sarcoma (bone cancer), breast cancer, and lung cancer have also been reported with CDKN2A mutations. In addition to the CDKN2A gene, there are a number of other genes that are associated with hereditary pancreatic cancer. GeneDx offers a comprehensive test which detects changes in known genes that are clinically determined to increase the risk of pancreatic cancer. For more information, please visit our website: Who should consider genetic testing for hereditary pancreatic cancer? Pre-test genetic counseling is recommended for individuals who are interested in understanding their risks and/or meet the clinical criteria and are considering testing for hereditary pancreatic cancer. 2

4 Your doctor or genetic counselor may recommend that you consider genetic testing for hereditary pancreatic cancer if you meet certain criteria. These clinical criteria include: A personal or family history of multiple, related cancers (examples of related cancers include pancreatic and melanoma skin cancers OR pancreatic and breast cancers). A medical history suggestive of a hereditary pancreatic cancer syndrome, such as a history of multiple atypical moles and breast cancer. A pattern of cancer in which the individuals with similar or related cancers are on one side of the family spanning multiple generations. A personal or family history of pancreatic or other related cancers at a young age. Generally, cancers due to a hereditary predisposition are more common under the age of 50. What can I expect to learn from genetic testing for pancreatic cancer? There are three possible outcomes following genetic testing for hereditary pancreatic cancer: Positive Result A positive result means that a disease-causing mutation has been identified and the risk for cancer is increased. The lifetime risk for cancer depends on which gene was identified as having a disease-causing mutation. Doctors can use this information to determine the most appropriate medical management plan, which may include increased cancer screening, medications to reduce the risk of cancer and/or surgery. First-degree relatives, including parents, siblings and children have up to a 50% risk to carry the same mutation. Individuals who have a positive result should share a copy of their test report with family members so they can discuss genetic testing and medical management options with their physician and genetic counselor. PATIENT GUIDE FOR HEREDITARY PANCREATIC CANCER 3

5 Negative Result A negative results means that a disease-causing mutation was not identified. This result can have different implications, depending on the specific set of circumstances related to the testing. It is important to speak with a physician or genetic counselor to learn about the significance of negative genetic testing results in light of an individual s own medical and family history. Variant of Unknown Significance (VUS) A variant of unknown significance (VUS) means that a genetic change in a gene associated with hereditary pancreatic cancer was detected; however, it is not currently known whether this genetic change is associated with an increased risk of pancreatic or other cancers or it is a normal variant in the gene, which is not associated with an increased risk of cancer. To further clarify the clinical significance of the VUS, it may be helpful to test other family members. If relatives with cancer also have the variant, it is more likely that the variant causes pancreatic and/or other cancers. The greater the number of affected family members who carry the VUS, the greater the likelihood that the VUS is responsible for pancreatic cancer in the family. Over time, the VUS may become reclassified to either a positive or negative test result. How long does it take to get results? It will take approximately four weeks to complete the test (from the time the lab receives the blood sample to the time your physician receives the results). Your physician or genetic counselor will share your results with you and discuss them in the context of your medical and family histories. Will my insurance cover this test? GeneDx accepts all commercial insurance. GeneDx will bill your insurance company and appeal for payment. For more information, please visit our website at: or call us at

6 What if I do not have insurance? If you do not have health insurance or cannot afford to pay the full cost of testing, GeneDx provides a generous financial assistance program, including a significantly discounted price. For more information, call us at: If I test positive for a mutation, can GeneDx test my family members for the same mutation? Yes, GeneDx offers mutation-specific testing (for a known mutation) for family members of anyone who has been shown by GeneDx to have a genetic mutation. In most cases, testing a family member for a known mutation is performed simply by looking for the particular mutation or mutations that you have. This testing is done from a blood sample and must be ordered by a doctor. Sharing a copy of your genetic test report can help your family member s doctor or genetic counselor order the correct genetic testing. If a family member has been tested at another lab, we can still test you or other family members. We require at least a copy of the report from the laboratory that previously performed the testing on your family member, and we also prefer blood from the previously-tested relative to be sent along with the sample for confirmation. For more information, please call one of our genetic counselors at: Can my health insurer or employer discriminate against me based on my test results? No, The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a federal law that protects Americans from discrimination by health insurance companies and employers based on their genetic information. However, this law does not cover life insurance, disability insurance, or long-term care insurance. GINA s employment protections do not extend to individuals in the U.S. military, federal employees, Veterans Health Administration and Indian Health Service. Some of these organizations may have internal policies to address genetic discrimination. For more information, please visit: PATIENT GUIDE FOR HEREDITARY PANCREATIC CANCER 5

7 Resources for Patients National Cancer Institute GeneDx American Cancer Society Pancreatic Cancer Action Network Pancreatic Cancer Alliance National Society of Genetic Counselors 6

8 How can I order this test? Your physician can order this test by taking the following steps: 1. Download the OncogeneDx test requisition form from the GeneDx website: 2. Complete all the forms with required information 3. Ship completed forms along with two 4mL lavender top tubes of blood samples per person to the following address: Accessions GeneDx 207 Perry Parkway Gaithersburg, MD We provide shipping kits to physicians upon request. To place an order for shipping kits, please visit our website: or us at: wecare@genedx.com About GeneDx GeneDx is a highly respected company that specializes in genetic testing for rare inherited disorders. Two scientists from the National Institutes of Health (NIH) founded the company in 2000 to address the needs of patients and clinicians concerned with rare inherited disorders. Currently, GeneDx offers testing for more than 350 rare Mendelian disorders, using DNA sequencing and deletion/duplication analysis of the associated gene(s). GeneDx also offers oligonucleotide microarray-based testing for detecting chromosomal abnormalities, testing for autism spectrum disorders and testing for various inherited cardiac disorders. Our growing staff of more than 30 geneticists and genetic counselors, specialized in clinical genetics, molecular genetics, metabolic genetics and cytogenetics, are just a phone call or away. We invite you to visit our website: to learn more about us and the services we offer. 207 Perry Parkway Gaithersburg, MD T F E wecare@genedx.com GeneDx. All rights reserved /13 Information current as of 08/2014