Erin Wysong Hofstatter, MD, associate professor, co-director, Cancer Genetics and Prevention Program, Yale Cancer Center, discusses what impact the advancements with molecular testing have had on the identification of genetic abnormalities in patients with breast cancer.

There are two types of genetics in breast cancer, Hoftstatter explains, one of which is hereditary. This is where physicians explore whether any of those genes are ones that a patient was born with and are they passed through a family member that will lead to an increased risk of breast cancers in the future. In this setting, researchers think how will this breast cancer be treated, and how can it be prevented in the future.

However, the other genetic type, she adds, is tumor genetics. An example of this is when a patient has breast cancer in the metastatic setting, practitioners find a gene, and determine how to best treat it. Hofstatter lists chemotherapy or a targeted or biologic agent as optimal treatment. In this case, a sample of the tumor is taken in for next-generation sequencing. This is an exciting field that has potential that has not yet been realized, she adds. Moreover, the availability of drugs is still limited. This is expected to revolutionize over the next decade, however.

An example of this is The National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH) trial. NCI-MATCH seeks to determine whether treating patients with cancers according to their molecular abnormalities will demonstrate evidence of efficacy. Investigators involved in the trial also have the ability add or drop new treatments over time. Additionally, each treatment is used in a unique arm of the trial.

The NCI-MATCH trial opened for enrollment in August 2015 with 10 treatment arms and was expected to have a total of 24 treatment arms by June 2016. Each arm is expected to enroll a maximum of 35 patients.

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Dr. Hoftstatter on Impact of Molecular Testing on Genetic Abnormalities in Breast Cancer

Erin Wysong Hofstatter, MD, associate professor, co-director, Cancer Genetics and Prevention Program, Yale Cancer Center, discusses the important factors for identifying potentially high-risk patients in breast cancer.

Getting a diagnosis at an early age is one "red flag," says Hofstatter. If a patient is diagnosed under the age of 50, a physician should consider recommending cancer genetic counseling and potentially genetic testing. Moreover, even if a healthy, unaffected patient has a first-, second-, or third-degree relative who was diagnosed with breast cancer before the age of 50, genetic counseling and/or testing would be highly recommended for that patient as well.

Clustering of certain cancers within one family is another important potential indicator of high-risk disease, even if they appear to be completely unrelated to breast cancer. Thus, gathering an extended three-generation pedigree can be extremely important when it comes to diagnosing breast cancer.

Erin Wysong Hofstatter, MD

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Dr. Hoftstatter on Impact of Molecular Testing on Genetic Abnormalities in Breast Cancer

Dr. Hofstatter on Identifying High-Risk Patients in Breast Cancer