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Press Release

Ambry Presents Research Expanding Our Understanding of Gene Disease Relationships at the San Antonio Breast Cancer Symposium

Ambry Genetics Corporation
Posted on: 05 Dec 17

Ambry Genetics Corporation (Ambry), a leading clinical genetics-testing lab, is presenting data this week at San Antonio Breast Cancer Symposium (SABCS) to help the medical community further understand the genetic mutations behind hereditary breast cancer, which accounts for up to 10% of all breast cancer diagnoses.

Depending on the genetic makeup of the individual, personalized management strategies may improve patient outcomes. Ambry is presenting research which shows a wide range of genetic presentations among hereditary breast cancer patients, each of which may influence disease management.

Ambry’s research focuses on delivering additional insights about the hereditary aspects of breast cancer, as education of medical professionals is pivotal to increasing the number of breast cancer patients who are properly assessed for hereditary cancer. As a result of such clinician education, more patients are given the chance to better understand their cancer risks and that of their family members, so that personalized medical management plans can be put into place sooner rather than later.

“Patients who know more about their risk for breast cancer can undergo increased screening and/or preventive surgery for early detection and prevention of cancer,” says Jessica Profato, MS CGC, Ambry’s Oncology and Preventive Medicine Product Manager. “That is why our goal at SABCS is twofold – to share research that helps us better understand hereditary breast cancer, and educate clinicians about risk assessment, genetic testing options, and how to best manage patients with hereditary breast cancer.”

At the conference, attendees can view two posters and speak to the authors on December 6, from 5-7 p.m. Dr. Fergus Couch of the Mayo Clinic presents research entitled Triple negative breast cancer predisposition genes(Abstract# 1049, Program Number: PD1-01), demonstrating the importance of multigene panel testing for women with triple negative breast cancer. The study identifies additional triple negative breast cancer predisposition genes beyond BRCA1/2, increasing the potential number of patients and families who could benefit from personalized management.

Another poster by Ambry researcher Michelle Jackson, MS, CGC, is entitled Moderate Risk Genes Matter: Multigene Testing for Hereditary Breast Cancer (Abstract# 1224, Program Number: PD1-11). This study demonstrates the important role moderate risk genes play in breast cancer susceptibility and the importance of comprehensive multigene panel testing to guide clinicians’ patient care.

Additionally, on December 9, from 7:00-9:00 a.m., Jenna Lilyquist, PhD, of the Mayo Clinic will present Associations between hereditary cancer panel predisposition genes and breast cancer histological subtypes (Abstract# 1556, Program Number: P6-09-02) which uses Ambry de-identified data to identify associations between inherited mutations and specific breast cancer subtypes – information that can guide clinicians towards the creation of improved patient management plans.

Ambry is on a mission to understand human disease through genetic research, and believes that sharing these discoveries has the potential to assist clinicians treating patients with hereditary breast cancer, regardless of the stage in their journey.

About Ambry

Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit

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Last updated on: 05/12/2017

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