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

Erin Wysong Hofstatter, MD
Published: Tuesday, Oct 25, 2016



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.


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.



View Conference Coverage
Online CME Activities
TitleExpiration DateCME Credits
34th Annual Miami Breast Cancer Conference® Clinical Case Vignette Series™May 25, 20182.0
Community Practice Connections™: CDK4/6 Inhibitors With the Experts: The Role of Emerging Agents for the Management of Metastatic Breast CancerMay 30, 20182.0
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