Precision Medicine in Cancer Care

Not everyone reacts to a medicine in the same way. Health care providers and patients would like to know ahead of time whether a particular treatment is more likely to work for that particular patient. This is where the emerging field of precision medicine comes in. Precision medicine looks at an individual's genes, environment and lifestyle to better predict whether a specific treatment will be more effective.

At MUSC Hollings Cancer Center, we are applying the concepts of precision medicine to cancer care. As a patient, you may be told that your providers are using biomarker testing, molecular testing, genomic testing or other types of tests. These tests are all meant to help doctors to make more informed recommendations about the types of treatment that you should get.

Our mission is to help patients better understand molecular testing in cancer and to provide resources to help everyone to make sense of this complicated topic and to make informed decisions about their health.

National Recognition in Cancer Care

MUSC Hollings Cancer Center is recognized by U.S. News & World Report as High Performing in cancer care, affirming our excellence in preventing, diagnosing, treating, and supporting patients with cancer. As the only National Cancer Institute (NCI)-designated cancer center in South Carolina, Hollings blends cutting-edge research, multidisciplinary clinical expertise, and advanced treatments to deliver outcomes that stand out on a national scale.

The Hollings difference

Precision oncology at Hollings

Not all cancers are the same - even when they come from the same region of the body. Breast cancer in one woman can be very different than breast cancer in another woman. There are molecular differences between tumors, and providers want to match each tumor to the treatment that will be most effective against it. Although tumors may have mutations, not all mutations are inherited and some of the testing recommended by your provider may help identify which mutations are inherited.

Although all inherited mutations that can increase risk for cancer are rare, some have been highlighted over the years. For example, the BRCA1 gene may increase risk for cancers including breast, ovarian, prostate, pancreatic and other cancers. These mutations may be called “germline” or “constitutional” mutations. Our team assesses all of our patients for the possibility of inherited mutations and the Hollings Hereditary Cancer Clinic helps assure these patients and their families have the information and appropriate monitoring they need.

However, in most tumors, the genetic mutations are only in the tumor and not in the rest of the body’s cells. These mutations are not inherited but considered to be “acquired” during the lifetime of the patient. Tumors are made up of cells that started out as normal cells, then acquire genetic changes that lead to growth that is not under control. So, a cancer will have many mutations that are specific to it and not seen anywhere else in the body. For example, even if you did not inherit BRCA1 from a parent, the tumor cells may have acquired a BRCA1 mutation. There are hundreds of genes that may be mutated in a tumor and identifying the right mutations may lead to “targeted” cancer care with medicine that is more specific for each tumor. These mutations may be called “acquired,” “somatic” or “tumor-associated” mutations.

Whenever possible, our providers use such testing, in consultation with the precision pathology and oncology teams, to help determine which treatments might be most effective for you. Most of this testing happens behind the scenes, after a discussion between you and your health care providers, but your provider will tell you if there is a result that changes the course of action. In some cases, one of our clinical trials may be right for you.

Hereditary Cancer Clinic

Managing Cancer Risk

The Hereditary Cancer Clinic at Hollings is dedicated to helping people with mutations in cancer-causing genes.

Learn about the clinic

Family cancer syndromes

Some inherited mutations can cause patterns of certain types of cancers that run in families. These are called family cancer syndromes. More information about some of these is below.

What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome (LFS) is an inherited familial characteristic that could lead to certain, often rare, cancers due to mutations in the TP53 tumor suppressor gene. TP53 is a tumor suppressor, and it gives instructions for making proteins that control how fast cells grow and divide to make new cells. TP53 proteins help stop the growth of abnormal cells.

Some cancers often associated with Li-Fraumeni syndrome include breast cancer, bone cancers called osteosarcoma (osteo=bone & sarcoma=cancer) and cancers in soft tissues. Other cancers can also be in the brain, blood and glands on the top of each kidney.

There is no set screening protocol for LFS, but it includes a combination of regular and varied imaging tests (MRI, ultrasound, etc.), blood tests and clinical examinations to detect cancers at their earliest and most treatable stages. Regular screenings usually begin in childhood and continue throughout life.

Yes, LFS is an inherited disorder, passed on in an autosomal dominant manner, and family members are also at risk of developing cancer. The primary intervention for LFS is vigilant cancer screening, lifestyle changes to reduce cancer risks and consideration of risk-reducing surgeries for certain types of cancer. Genetic counseling is also essential for understanding and managing the condition.

What is Lynch syndrome?

Lynch syndrome is an autosomal dominant trait that is an inherited copy of an altered gene in each cell that causes higher cancer risks. Not all people that inherit the variants in the genes causing Lynch syndrome develop cancer.

Lynch syndrome increases the risk of many types of cancer, often in the colon (large intestine) and rectum, which is also called colorectal cancer. People with Lynch syndrome also have a higher risk of cancers in the stomach, small intestine, liver, gall bladder ducts, urinary tracts, brain and skin. People with Lynch syndrome who develop cancer typically have it occur in their forties or fifties.

Yes, Lynch syndrome is an inherited disorder, passed on in an autosomal dominant manner, and family members are also at risk of developing cancer.

Tests used in precision oncology

These are a few of the tests that might be performed after you are diagnosed with cancer.

Germline testing looks for gene mutations that you inherited from your parents. These mutations have been with you since birth.

Even if you're already been diagnosed with cancer, it's important to know whether you have these inherited mutations. They could mean that one treatment is more likely to be successful than another.

Also, if you find that you have a hereditary cancer, your siblings and children should get genetic testing to see if they carry these gene mutations that make cancer more likely. Knowing that they have these genetic mutations will empower them to make preventive and monitoring choices before a cancer diagnosis.

Somatic testing looks for gene mutations inside the cancer tumor. These mutations weren't inherited from your parents; they happened somewhere along the way.

Mutations aren't unusual. They can happen when your cells are exposed to certain substances, like radiation or tobacco smoke. Most of the time, though, they simply happen with aging. When your body is copying 330 billion cells each day, mistakes can happen. Your cells have a system in place to catch most of those mistakes and destroy them.

But when mutations occur in genes that are responsible for DNA repair or for suppressing tumors, then cancer can begin to grow.

Biomarker testing can be germline or somatic. A biomarker is a gene, protein, molecule or other substance in your body; like a flag raised in a race, it alerts doctors that something is happening. We don't yet know the biomarkers for every type of cancer, but scientists are continuing to search for biomarkers that can help doctors and patients to make more precise treatment choices. These are some of the different types of biomarkers:

Risk biomarkers indicate you have the potential to develop a disease. By knowing this ahead of time, doctors can be prepared. For example, some women who learn they have a BRCA gene mutation decide to have a preventive mastectomy. Others may prefer more frequent mammograms and MRI testing.
Diagnostic biomarkers show doctors the subtype of cancer that you have.
Monitoring biomarkers help doctors to follow your progress over time. For example, a man with somewhat elevated prostate specific antigen (PSA) markers may decide on active surveillance rather than immediate treatment for prostate cancer, because prostate cancer is usually slow growing. His doctor will regularly check his PSA levels; if they reach a certain level, then the doctor and patient may decide to proceed with treatment for prostate cancer.
Predictive biomarkers indicate which patients are more likely to benefit - or to have a negative outcome - from a particular treatment. For example, predictive biomarker testing in non-small cell lung cancer shows doctors which types of chemotherapy will be most helpful for an individual patient.

Reviewing your options

Genetic Counseling at Hollings

Our certified genetic counselors can review your family history of cancer and help you to assess testing options.

Genetic Counseling

Common questions about cancer testing

Check with your insurance carrier to see what is covered. If your insurance does not cover testing, we will contact the financial services department. Our goal is for you to receive the testing you need without creating financial burdens, and 95% of our patients pay $100 or less.

You may be asked to provide your past medical history.

Testing can take one to six weeks.

As part of the 21st Century Cures Act, results are posted to your MyChart account as soon as they are available. A nurse navigator or the clinic will also contact you with the results and may schedule a follow-up appointment, but you will have access to the results before that happens.

If you don't want to get notifications of new test results from MyChart, you can go into "communication preferences" under the "your menu" tab and change the types of notifications you wish to receive.

The results will be available in MyChart.

In Our DNA SC

In Our DNA SC is a community health research project launched by MUSC. The goal is to help improve access to personalized health care and support new research discoveries for our community. Participants are screened at no cost for three conditions that may indicate a higher risk for several types of cancer and heart disease.

Learn More

Meet our team

Thai Ho, M.D., Ph.D.
Director
Dr. Ho is the Director of Precision Medicine at MUSC Hollings Cancer Center. He has been caring for patients affected by genitourinary cancers for over 10 years. His area of expertise and the focus of his research is in treating kidney and bladder cancers. He also sees patients with kidney, bladder, upper tract urothelial, and prostate cancers, as well as patients affected by hereditary cancer syndromes.

His research is funded by the National Institutes of Health and Department of Defense to better match cancer patients with targeted therapies by using precision medicine approaches to identify a cancer's unique vulnerabilities.

Samantha Green, MHA, MSHI, CG(ASCP)CM
Program Manager
Samantha Green is the Program Manager for Precision Medicine at MUSC Hollings Cancer Center. She has been working in cytogenetics for over 15 years. One of the many goals of precision medicine includes providing information to help patients better understand molecular testing.