patient guide BRCA1 and BRCA2 Genetic Testing for Hereditary Breast and Ovarian Cancer

patient guide BRCA1 and BRCA2 Genetic Testing for Hereditary Breast and Ovarian Cancer

What is hereditary cancer? Cancer affects many people in the U.S.: breast cancer affects 1 in 8 women and ovarian cancer affects 1 in 71 women in their lifetime. Although many people have a family history of cancer, the majority of breast and ovarian cancers are not due to inherited causes. Only about 10% of cancer is hereditary (due to inherited genetic causes). People who carry these genetic changes are born with them they do not develop over time. Understanding if a family history of cancer is due to inherited genetic causes can help clarify future risks and target cancer surveillance. cancer type breakdown Familial, 15-20% Hereditary, 5-10% Sporadic, 70-80% BRCA1 and BRCA2 are the most common causes of hereditary breast and hereditary ovarian cancer Many families with a history of breast and/or ovarian cancer do not have an identifiable genetic cause. These familial cases may be due to other genes, shared factors such as environment and lifestyle, or a combination of all of these. The majority of breast and ovarian cancers occur in people with no family history of the disease and no genetic risk. These occurrences are called sporadic cancers and happen by chance.

what is your risk for breast and/or ovarian cancer? Risk assessment by a healthcare provider can help define your chance of developing breast and ovarian cancer. - A person with no family history of cancer is most likely at sporadic or average risk (shown on the graph below). - For a person who has a family history of breast and/or ovarian cancer, BRCA1/2 genetic testing may be indicated to help determine if she/he has a moderately increased familial risk or a high hereditary risk of developing cancer. - If someone has had breast or ovarian cancer, BRCA1/2 genetic testing may be indicated to help determine if s/he has an increased risk for additional cancers. what are the brca1 and brca2 genes? Everyone has the BRCA1 and BRCA2 genes. Their function is to help prevent cancer in specific body parts. If the BRCA1 or BRCA2 gene is not functioning properly (due to an inherited gene mutation), then there is an increased risk for breast, ovarian, fallopian tube, pancreatic, prostate, and male breast cancer. brca1/2 lifetime cancer risk (%) 45-87 General Population 11-40 BRCA Positive 12 Breast Cancer 2 Ovarian Cancer Male Breast Cancer Prostate Cancer The genetic test analyzes the BRCA genes to identify if there are any inherited changes (mutations) in them that increase the risk for cancer. 0.1 5-10 14 15-20 BRCA1/2 mutation carriers often develop cancer at younger than typical ages and have an increased risk for second primary tumors.

is brca1 and brca2 genetic testing indicated for you? Genetic testing may be indicated if you have a personal history and/or family history of any of the following: Breast cancer diagnosed age 45 or younger Ashkenazi Jewish ancestry with breast cancer at any age Triple negative* breast cancer diagnosed age 60 or younger Bilateral breast cancer Ovarian, fallopian tube, or primary peritoneal cancer at any age potential genetic test results & implications Male breast cancer at any age Three or more cases of breast, ovarian, pancreatic, and/or prostate cancer (on the same side of the family) Known BRCA1 or BRCA2 mutation in the family * Triple negative refers to breast cancers that are estrogen receptor, progesterone receptor, and HER2/neu negative. positive negative inconclusive A gene change ( mutation ) was found in one of the genes tested. There is an increased risk for certain cancer(s) specific to the gene mutation. Cancer screening and prevention recommendations will be provided by your clinician(s) based on the genetic test result. Genetic testing will be recommended for family members. No changes, or mutations, were found in any of the genes tested. Cancer risk(s) are specific to the family history of cancer. Cancer screening and prevention recommendations will be made by your clinician(s) based on the family history of cancer. Genetic testing most likely will not be recommended for other family members. A genetic change was found but it is unclear if this change is benign or increases risk for cancer. Cancer risk(s) are specific to the family history of cancer. Cancer screening and prevention recommendations will be made by your clinician(s) based on the family history of cancer. Genetic testing most likely will not be recommended for other family members.

recommendations for individuals with a brca1 /2 mutation women Breast Cancer Management 1. Breast awareness starting at 18 2. Clinical breast exam every 6-12 months starting at age 25 3. Annual mammogram and breast MRI starting at age 25 4. Optional risk-reducing mastectomy 5. Discuss chemoprevention options Ovarian Cancer Management 1. Risk-reducing bilateral salpingo oophorectomy between age 35-40 or after completion of childbearing 2. Consider transvaginal ultrasound and CA-125 every 6 months beginning at age 30 or 5-10 years before the earliest ovarian cancer in the family. 3. Discuss chemoprevention options men Breast Cancer Management 1. Breast self-exam training and education starting at age 35 2. Clinical breast exam every 6-12 months starting at age 35 3. Consider mammogram at age 40; annual mammogram if indicated based on baseline study findings Prostate Cancer Management 1. Consider prostate screening starting at age 40 with digital rectal exam and PSA recommendations for individuals with no mutation For individuals with a personal history of breast cancer, follow stage appropriate care and follow-up. For individuals with a family history of breast cancer (no personal history): - Clinical breast exam every 6-12 months - Annual breast imaging beginning at age 35, or 5-10 years earlier than the youngest breast cancer in the family - For women with a lifetime breast cancer risk of greater than 20%, annual imaging with mammogram and breast MRI may be indicated If there is a known BRCA mutation in the family and you test negative, general breast screening is most likely appropriate. If there are other types of cancers in the family, other screening and prevention options may be appropriate specific to cancers in the family.

common questions about genetic testing q1. will genetic testing be covered by my insurance? When patients meet the indications described on page 2, genetic testing is typically covered, and most patients have coverage at 90 or 100%. Ambry Genetics works closely with insurance companies through a coverage verification process. If out-ofpocket costs are anticipated to be greater than $100, you will be contacted before the test is started. q2. how does genetic testing work? The genetic test is done using a blood or saliva sample. Your sample is sent overnight in a special kit to Ambry Genetics Laboratory (this is all coordinated by your healthcare provider). Once your sample arrives at Ambry, your BRCA1 and BRCA2 genes are analyzed for both small mutations (sequence changes) and large mutations (duplications & deletions). The genetic test looks for mutations that make the gene non-functional which cause an increased risk for cancer. q3. can genetic testing results be used against me? The Genetic Information Non-Discrimination Act (2008) prohibits discrimination by health insurance companies and employers based on genetic information. Additionally, Ambry Genetics only provides genetic test results to your ordering healthcare provider. q4. if i previously had cancer, do i need genetic testing? BRCA1/2 genetic testing is most informative when first performed in a family member who has already had breast or ovarian cancer. Results can provide an explanation for why the cancer occurred, and, more importantly, can provide information about future cancer risks. Genetic test results can change your ongoing medical management and can help your family members understand their risk of developing cancer.

test result and recommendations (To be completed by you and your healthcare provider when you receive your genetic test results and medical management recommendations) test result No Mutation Detected Positive for a mutation in gene Variant of unknown significance in gene recommendations for you recommendations for family members Genetic testing not indicated for family members Genetic testing recommended for family members

support groups Support groups can build a sense of community and aid in answering some of the everyday questions. Bright Pink brightpink.org Facing Our Risk of Cancer Empowered (FORCE) facingourrisk.org Susan G. Komen Breast Cancer Foundation komen.org Young Survival Coalition youngsurvival.org National Ovarian Cancer Coalition ovarian.org about ambry Innovation: Ambry is a leading provider of diagnostic genetic testing, with years of experience using next-generation sequencing technologies. Expertise: Since 2001, Ambry has performed hundreds of thousands of genetic tests and identified more than 45,000 mutations in greater than 500 different genes. 15 Argonaut Aliso Viejo, CA 92656 (866) 262 7943 To learn more visit ambrygen.com other resources Find a Genetic Counselor nsgc.org D1013-09-165-MKG-00