Cancer Testing for Hereditary Breast and Ovarian Cancer

BRACAnalysis® is a genetic test that confirms the presence of a BRCA1 or BRCA2 gene mutation. BRCA mutations are responsible for the majority of hereditary breast and ovarian cancers. People with a mutation in either the BRCA1 or BRCA2 gene have risks of up to 87% for developing breast cancer and up to 44% for developing ovarian cancer by age 70. Mutation carriers previously diagnosed with cancer also have a significantly increased risk of developing a second primary cancer. Genetic testing, specifically the BRACAnalysis test, identifies patients who have these mutations.

BRACAnalysis is a simple blood test or oral rinse sample to find out if you have the BRCA1 or BRCA2 mutation. Knowing the results may help you and your healthcare provider act before cancer has a chance to develop.

BENEFITS OF BRACANALYSIS TESTING

The results of the BRACAnalysis test enable the development of patient-specific medical management plans to significantly reduce the risk of cancer. BRACAnalysis will allow you to:

• Target increased surveillance and other interventions specifically to individuals with a BRCA1 or BRCA2 mutation – maximizing patient care and increasing clinical efficiency
• Significantly improve outcomes and reduce medical costs through earlier diagnosis and treatment of cancer, should it develop
• Counsel patients and family members on the underlying causes of the pattern of breast and/or ovarian cancer in their family
• Avoid unnecessary interventions for family members who do not test positive for the mutation known to be in the family

MEDICAL MANAGEMENT AND BRACANALYSIS

If BRACAnalysis testing confirms the presence of a BRCA1 or BRCA2 mutation, the following medical management options may help reduce cancer risk and may either delay the onset of cancer, detect cancer at an earlier, more treatable stage or may even prevent it.

• Increased surveillance for breast cancer in mutation carriers
• Increased surveillance for ovarian cancer in mutation carriers
• Risk-reducing medications for mutation carriers
• Prophylactic surgery in mutation carriers

Myriad has developed COLARIS®: Hereditary Cancer Testing for Colorectal Cancer and Uterine Cancer. COLARIS® is a genetic test that assesses a person’s risk of developing hereditary colorectal cancer and a woman’s risk of developing hereditary uterine cancer. COLARISPLUS detects disease-causing mutations in the MLH1, MSH2, MSH6, PMS2, EPCAM, and MYH genes that are responsible for the majority of Lynch syndrome and MYH-associated polyposis (MAP) cases. Lynch syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is the most common of the hereditary colon cancer syndromes and is believed to account for 3% to 5% of all colorectal cancers. COLARIS is a test for Lynch syndrome. Knowing the results may help patients and their physicians to take steps to prevent cancer before it has a chance to develop.

MYH-associated polyposis (MAP) is caused by mutations in the mutY homolog (MYH) gene. Individuals with MAP have mutations in both of their MYH genes (one from each parent, often referred to as "biallelic MYH mutations"). Patients often have no family history of colon cancer or polyps in parents (although siblings may be affected).83 The MYH gene is an important part of the base excision repair (BER) pathway, which allows for repair of DNA mutations caused by oxidative damage to cells.

Colaris is a simple blood test or oral rinse sample to find out if you have a MLH1, MSH2, MSH6, PMS2, EPCAM or MYH mutation(s). Knowing the results may help you and your doctor act before cancer has a chance to develop.

BENEFITS OF COLARIS TESTING

The results of the COLARIS test enable the development of a patient-specific medical management roadmap to significantly reduce the risk of cancer. COLARIS will help you to:

• Target increased surveillance and other interventions specifically to individuals with a Lynch Syndrome or MYH-associated polyposis (MAP) mutation(s) - personalizing patient care and increasing clinical efficiency
• Improve patient compliance with tailored screening recommendations and preventive measures
• Significantly improve outcomes and reduce medical costs through prevention, earlier diagnosis and treatment of cancer, should it develop
• Counsel patients and family members on the underlying cause of cancer in their family
• Avoid unnecessary interventions for family members who do not test positive for the mutation(s) known to be in the family

MEDICAL MANAGEMENT AND COLARIS

Once a diagnosis of Lynch syndrome or MAP is confirmed, the following medical management options may help reduce the risk of cancer or detect cancer at an earlier, more treatable stage.

COLON CANCER (LYNCH SYNDROME AND MAP)

• Increased surveillance for colorectal cancer
• Surgical management of colorectal cancer Endometrial and Ovarian Cancer (Lynch syndrome)
• Surveillance for endometrial and ovarian cancer
• Surgical management of endometrial and ovarian cancer Surveillance for Other Lynch Syndrome-Related Cancers (Lynch syndrome)
• Upper GI endoscopy, urinalysis, physical examination.

If you have any concerns for hereditary risk for breast, ovarian or uterine cancer, please call our office at 516.294.4700 or 516.294.1800 to schedule a Pre-Testing Counseling Office Appointment with your doctor. Myriad has developed a Hereditary Cancer Quiz you can use to help determine whether you’re a candidate for genetic testing using BRACAnalysis® or COLARIS. This quiz takes less than one minute to complete. https://www.hereditarycancerquiz.com/femmpro

We hope you will join us in supporting awareness, advocacy and funding to cure hereditary gynecological cancers and all cancers. We believe that the cure for cancer is in sight and will stem from basic and fundamental scientific research in both immunology and gene therapy. For more information, please visit: Cancer Research Institute www.cancerresearch.org. Alliance for Cancer Gene Therapy www.acgtfoundation.org.