No one should face hereditary cancer alone.

Thinking about cancer or dealing with cancer risk can be scary or overwhelming, but we believe that receiving information and resources is comforting, empowering, and lifesaving.


BRCA & HBOC
Toggle Menu

Tumor Testing

There are many options for treating hereditary cancers. Choice of treatment can be personalized based on cancer type, stage and genetics.

Companion diagnostic testing

In some cases, knowledge of changes in cancer cells helps doctors choose the best treatment. Some treatments—particularly some targeted therapies—are effective only for people whose cancer cells have specific changes. These treatments are often accompanied by “companion diagnostic tests” that look for certain changes indicating that a tumor may respond well to the therapy. As new targeted therapies are approved, companion diagnostic tests may become available to help doctors learn which patients are more or less likely to respond to these treatments.

 Testing for treatment decisions in ovarian cancer

In certain circumstances, tumor testing can help doctors select treatment for ovarian, fallopian tube and primary peritoneal cancer.  

  • Microsatellite instability or mismatch repair deficiency testing: Some ovarian cancer patients have tumors that are "microsatellite instability - high” (MSI-H), also known as "mismatch repair deficient (MMR-D). Tumor testing for MSI-H/MMR-D can help identify people who might benefit from the immunotherapy agent, pembrolizumab. Pembrolizumab is an immunotherapy that is FDA approval to treat any MSI-H cancers, including ovarian cancer. Several labs have tumor tests for MSI. The FDA-approved FoundationOne test identifies multiple targets in tumors, including MSI. 

  • Testing for inherited mutations or tumor mutations in BRCA1 or BRCA2 can help identify advanced ovarian cancer most likely to respond to PARP inhibitors. Several tests are available that look these mutations.

    • FoundationFocus CDxBRCA looks at advanced ovarian cancers to determine likely benefit from the PARP inhibitor Rubraca.

    • Myriad BRACAnalysis CDx is a companion diagnostic blood test used to determine if women with advanced, recurrent ovarian cancer would benefit from the PARP inhibitor Lynparza. Unlike the FoundationFocus CDxBRCA that looks for mutations in the tumor, this test looks only for inherited BRCA mutations.

    • Myriad's MyChoice HRD test is run on a biopsy sample and measures the ability of cancer cells to repair damage to their DNA. The test reports tumors as HRD-positive or HRD-negative. HRD positive tumors may respond particularly well to PARP inhibitors. The FDA approved the combination of Avastin and Lynparza for first-line maintenance therapy in women with HRD-positive ovarian cancer.

Additional tumor tests may also be available. Speak with your oncologist to learn if additional tumor testing may help guide your treatment decisions

As ovarian cancer research continues, more targeted therapies and companion diagnostic tests may be developed, receive FDA approval and be covered by insurance.

If you have been diagnosed with ovarian, fallopian tube or primary peritoneal cancer and you would like to participate in research to develop targeted therapies and companion diagnostic tests, visit our Research Study Search Tool to find studies that are enrolling people like you.

 Testing for treatment decisions in pancreatic cancer

In certain circumstances, tumor testing can help doctors select treatment for pancreatic cancer. 

  • Microsatellite instability or mismatch repair deficiency testing may find about 1% of pancreatic cancer patients with tumors that are "microsatellite instability - high” (MSI-H) or "mismatch repair deficient" (MMR-D). Tumor testing for MSI-H or MMR-D can help identify people who might benefit from the immunotherapy agent, pembrolizumab. Pembrolizumab is an immunotherapy that is FDA approval to treat any MSI-H cancers, including pancreatic cancer.  Several labs have tumor tests for MSI. The FDA-approved FoundationOne test identifies multiple targets in tumors, including MSI. If you have pancreatic cancer and your tumor has not been tested for MSI, ask your oncologist if the test might benefit you.
  • Testing for inherited mutations in BRCA1 or BRCA2 can find pancreatic cancers that may respond to PARP inhibitors. The PARP inhibitor Lynparza has been approved for maintenance therapy in people with advanced pancreatic cancer who have an inherited BRCA1 or BRCA2 mutation. Myriad's BRACAnalysis CDx is a companion diagnostic blood test used to determine likely benefit from the PARP inhibitor Lynparza. 

Speak with your oncologist to learn if additional testing may help guide your treatment decisions.

As pancreatic cancer research continues, new targeted therapies and companion diagnostic tests may be developed, receive FDA approval and be covered by insurance.

If you have been diagnosed with pancreatic cancer and you would like to participate in research looking at targeted therapies and companion diagnostic tests, visit our Research Study Search Tool to find studies that are enrolling people like you.

Testing for treatment decisions in breast cancer

In every case of invasive breast cancer, pathologists examine the tumor sample for three markers—estrogen (ER), progesterone (PR) and HER2 proteins—to determine the breast cancer type and develop a treatment plan. The results of these tumor marker tests play a major role in choice of systemic therapy. In metastatic or locally advanced breast cancer, additional testing may help doctors select treatment. 

  • Testing for inherited mutations in BRCA1 or BRCA2 can find breast cancers that may respond to PARP inhibitors. The PARP inhibitors Lynparza and Talzenna have been approved for treating metastatic breast cancer caused by a BRCA mutation. Myriad’s BRACAnalysis CDx is a companion diagnostic blood test used to determine if an individual with metastatic breast cancer might benefit from a PARP inhibitor.

  • Microsatellite instability or mismatch repair deficiency testing may find a small number of people with breast cancer who have tumors that are "microsatellite instability - high” (MSI-H), also known as "mismatch repair deficient (MMR-D). Tumor testing for MSI-H/MMR-D can help identify people who might benefit from the immunotherapy agent, pembrolizumab. Pembrolizumab is an immunotherapy that is FDA approval to treat any MSI-H cancers, including ovarian cancer.

    • Several labs have tumor tests for MSI. The FDA-approved FoundationOne test identifies multiple targets in tumors, including MSI. 

  • PIK3CA testing in advanced ER-positive, Her2-negative breast cancer can help identify people most likely to respond to the medication PIQRAY (alpelisib).  

  • PDL1 testing can help identify people with advanced triple-negative breast cancer (TNBC) who are most likely to respond to the immunotherapy drug Tecentriq (Atezolizumab).

As breast cancer research continues, new targeted therapies and companion diagnostic tests may be developed, receive FDA approval and be covered by insurance.

If you have been diagnosed with breast cancer and you would like to participate in research looking at targeted therapies and companion diagnostic tests, visit our Research Study Search Tool to find studies that are enrolling people like you.

Speak with your oncologist to learn if additional testing may help guide your treatment decisions.

Testing for treatment decisions in prostate cancer

Testing patients with advanced or metastatic prostate cancer can help doctors select treatments. 

  • Testing for inherited or tumor mutations can find mCRPC that may respond to PARP inhibitors. The PARP inhibitors Lynparza and Rubraca have been approved for treating mCRPC in men with an inherited or tumor mutation in BRCA1 or BRCA2. Lynparza was also approved for treating mCRPC in men with tumor mutations in additional genes that are known as HRR pathway genes, including ATM, CHEK2 and PALB2. Two tests have received FDA approval as companion diagnostic tests for the use of PARP inhibitors for prostate cancer:
    • FoundationFocus CDxBRCA looks at HRR pathway mutations genetic in tumors.
    • Myriad BRACAnalysis CDx is a companion diagnostic blood test looks for inherited BRCA mutations.
  • Microsatellite instability or mismatch repair deficiency testing may find about 1% of pancreatic cancer patients with tumors that are "microsatellite instability - high” (MSI-H) or "mismatch repair deficient" (MMR-D). Tumor testing for MSI-H or MMR-D can help identify people who might benefit from the immunotherapy agent, pembrolizumab. Pembrolizumab is an immunotherapy that is FDA approval to treat any MSI-H cancers, including pancreatic cancer.
    • Several labs have tumor tests for MSI. The FDA-approved FoundationOne test identifies multiple targets in tumors, including MSI. If you have pancreatic cancer and your tumor has not been tested for MSI, ask your oncologist if the test might benefit you.

As prostate cancer research continues, new targeted therapies and companion diagnostic tests may be developed, receive FDA approval and be covered by insurance.

If you have been diagnosed with prostate cancer and you would like to participate in research looking at targeted therapies and companion diagnostic tests, visit our Research Study Search Tool to find studies that are enrolling people like you.

Speak with your oncologist to learn if additional testing may help guide your treatment decisions.

Updated 06/06/2020

FORCE:Facing Our Risk of Cancer Empowered