Genetic and Biomarker Testing

Genetic testing for an inherited mutation (also called “germline genetic testing”) looks at DNA found in blood or saliva samples to find mutations that can cause diseases such as cancer. Genetic testing can help people understand their risk for cancer, help them make medical decisions, and take steps to lower their cancer risk or detect cancer early. For people already diagnosed with cancer, genetic testing can help people make medical decisions about how to best treat their cancer.

Biomarker testing is a way to look for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer. Each person’s cancer has a unique pattern of biomarkers. Some biomarkers affect how certain cancer treatments work. Biomarker testing may help you and your doctor choose a cancer treatment for you.

Genetic testing for hereditary cancer or inherited risk looks for genetic mutations you inherited from a parent that are present at birth. These mutations may increase your risk of multiple types of cancer.

For people diagnosed with cancer, biomarker testing looks at tumor tissue or blood to identify acquired genetic mutations. These mutations can measure risk for recurrence, aid in selection of treatment, or monitor response to treatment.

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Research shows that a significant portion of MBC patients have harmful inherited genetic mutations that increase cancer risk. Hereditary cancers tend to occur at younger ages and are often more aggressive than sporadic cancers. People with hereditary cancers often have an increased risk of multiple types of cancer.

NCCN Guidelines* (p. 24) provide suggestions about talking to your healthcare provider about genetic testing; women of any age with metastatic breast cancer may benefit from genetic counseling and testing to tailor their treatment.

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*Linked with permission from the NCCN Guidelines for Patients®: Metastatic Breast Cancer, 2022 © NCCN Foundation® 2022. All rights reserved. To view the most recent and complete version of the guideline, go online to NCCN.org/patients. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

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Studies show that minority patients with breast cancer are 50% to 65% less likely than white patients to get genetic testing, even if it is free or covered by insurance.

Among young breast cancer patients breast cancer patients, 18% of black women, 16% of white women, 8% of Hispanic women and 8% of Asian women had an inherited mutation in a gene associated with breast cancer.

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Certain biomarker or inherited genetic mutations may respond better to targeted therapies such as PARP inhibitors, immunotherapies, anti-Her2 therapies, CDK4/6 inhibitors and others.

In addition to the more well-known BRCA1 or BRCA2 genes and ER/PR expression, there are other genetic markers that have been linked to breast cancer: Her2neu overexpression, MSI-H or MMR-D, NTRK fusion, PD-1/PD-L1 expression, PIK3CA, and Tumor Mutational Burden (TMB).

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Abigail Johnston is a daughter, mother, wife, and attorney who was diagnosed with Stage IV Metastatic Breast Cancer in June of 2017. After her diagnosis, Abigail found her footing and started her blog “No Half Measures,” where she talks about whatever comes to mind within the lens of her Stage IV diagnosis. For Abigail, advocacy is a whole life endeavor and she never does anything halfway. Abigail works with Metavivor as a Peer-to-Peer Advocate, with Living Beyond Breast Cancer as a Hear My Voice Advocate and member of the Advisory Council for the 2020 Metastatic Conference, with After Breast Cancer Diagnosis (ABCD) as a mentor, with the 305PinkPack, where she and her dad moderate a support group for Stage IV patients. She started her own non-profit, Connect IV Legal Services, to recruit attorneys to do pro bono legal work for Stage IV metastatic breast cancer patients.

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Felicia Johnson was diagnosed de novo Metastatic Breast Cancer in 2003, the catalyst to launch her into patient advocacy and the Cancer Ministry. She shares her own experience and that of her generational breast cancer history in an accessible and informative manner. She is an avid learner of the science of breast cancer as a layperson and likes to educate, instruct and disseminate cancer information to persons in her communities. Felicia received training from Project Lead and the National Breast Cancer Coalition, Breast Cancer Peer-to-Peer education through the American Cancer Society, Thomas Jefferson Hospital’s Cancer Buddy Program and Living Beyond Breast Cancer’s Hear My Voice Program. She volunteers with Living Beyond Breast Cancer as a board member, and other breast cancer organizations nationwide. Her heart’s desire is to be used to bring information to the cancer toolbox of others.

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Gary Fields was diagnosed with metastatic breast cancer in September 2018 after undergoing treatment twice before for early-stage breast cancer. He married the love of his life, Michele, exactly one year after their first date; they have 4 children and will have been married for 35 years this November. He is a retired police officer with 16+ years in corrections and as a patrol officer, detective and crime prevention specialist. Since his diagnosis, he has been involved in patient advocacy and assists a former classmate with his charity, Cancer Kids and Christmas.

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