Breast and Ovarian Cancer

Transcription

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

2 Hereditary Breast and Ovarian Cancer What is hereditary breast and ovarian cancer (HBOC)? Breast and ovarian cancer occur when normal cells in the breast or ovary begin to grow uncontrollably, forming a mass called a tumor. Breast cancer is the most common cancer in women, diagnosed in 1 out of every 8 (~12%) women. Although the disease occurs more frequently in women, breast cancer can also occur in men. Ovarian cancer is the ninth most common cancer among females, occurring in 1 out of every 70 women. While the majority of breast and ovarian cancer is not inherited, approximately 5-10% of all cases of breast cancer and 25% of all cases of ovarian 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 breast and ovarian cancer, or HBOC. In addition to breast and ovarian cancer, individuals who carry a genetic mutation associated with HBOC may also have an increased risk for other types of cancer, such as pancreatic cancer, melanoma (skin cancer) and prostate cancer. How is HBOC 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 Affected Autosomal Dominant Unaffected father Unaffected Affected son Unaffected daughter Affected mother Unaffected son Adapted from U.S. National Library of Medicine Affected daughter 1

3 information to our children, if a person has a dominant condition, there is a chance to pass down the genetic mutation to each 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 genes are commonly associated with HBOC? Hereditary breast and ovarian cancer has been linked to mutations in a number of different genes. Most frequently, HBOC is associated with mutations in the BRCA1 and BRCA2 genes. The lifetime risk for breast and ovarian cancer in women with a mutation in one of these genes is significantly increased over the general population risk. Women with BRCA1 mutations have between 57-87% lifetime risk to develop breast cancer. BRCA2 mutation carriers have a 41-84% lifetime risk to develop breast cancer. The lifetime risk to develop ovarian cancer is between 24-54% for BRCA1/2-Associated Lifetime Risks by Cancer Type 100 BRCA1* 57-87% 41-84% BRCA2 80 Probability (%) % 11-27% 20-34% % 5-7% 0 Female Breast Male Breast* Ovarian Pancreatic* Prostate* Cancer Type *Individuals with BRCA1 mutations have increased risks for male breast, prostate, and pancreatic cancers, however the exact risks are not well-defined. PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER 2

4 BRCA1 and 11-27% for BRCA2 mutation carriers. Women with a change in one of these genes also have an increased risk for other types of cancer, including pancreatic cancer and melanoma. Men with a change in either of these genes have a higher chance of developing cancer as well. These cancers include breast, prostate, pancreatic and melanoma. In addition to the BRCA1 and BRCA2 genes, there are a number of other genes that are associated with HBOC. GeneDx offers a comprehensive test for breast and ovarian cancer, which detects changes in the BRCA1 and BRCA2 genes along with other known genes that are clinically determined to increase the risk of breast and/or ovarian cancer. For more information, please visit our website: Who should consider genetic testing for hereditary breast and ovarian cancer? Pre-test genetic counseling is recommended for individuals who are either interested in understanding their risks and/or meet the clinical criteria and are considering testing for hereditary breast and ovarian cancer. Your doctor or genetic counselor may recommend that you consider HBOC genetic testing if you meet certain criteria. These clinical criteria include: A personal or family history of multiple related cancers (examples of related cancers include breast and ovarian cancers). A personal or family history of breast cancer at a young age. Generally, cancers due to a hereditary predisposition are diagnosed under the age of 50. 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 breast or ovarian cancer along with Ashkenazi Jewish ancestry. A personal or family history of bilateral breast cancer (cancer in both breasts). A personal or family history of ovarian, primary peritoneal, fallopian tube, or male breast cancer, regardless of age. 3

5 What can I expect to learn from genetic testing for HBOC? There are three possible outcomes following genetic testing for HBOC: 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. 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 HBOC 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 HBOC was detected; however, it is not currently known whether this genetic change is associated with an increased risk of breast, ovarian 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 breast and/or ovarian cancer. The greater the number of affected PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER 4

6 family members who carry the VUS, the greater the likelihood that the VUS is responsible for breast and/or ovarian 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). If you have been tested for BRCA1/2 only, it will take approximately 2 weeks to receive your 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 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 5

7 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: Resources for Patients Bright Pink: FORCE: NCI: National Society of Genetic Counselors: Sharsheret: Susan G. Komen: PATIENT GUIDE FOR HEREDITARY BREAST AND OVARIAN CANCER 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 genetic testing company, founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients and clinicians concerned with rare inherited disorders. Currently, GeneDx offers whole exome sequencing, oligonucleotide microarray-based testing for detecting chromosomal abnormalities, testing for inherited eye disorders and autism spectrum disorders and gene panels for testing various forms of inherited cardiac disorders, mitochondrial disorders, neurological disorders and inherited cancer disorders. At GeneDx, our technical services are matched by our scientific expertise and customer support. Our growing staff includes more than 40 geneticists and genetic counselors specialized in clinical genetics, molecular genetics, metabolic genetics and cytogenetics who 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 /15 Information current as of 12/2014