Ambry to Present New Data Showing That up to 30% of Cancer Risk Carriers Are Missed by Current Testing Guidelines at the 2017 ASCO Meeting

ALISO VIEJO, Calif.--()--Ambry Genetics (Ambry), a leading clinical genetics testing lab, is showcasing groundbreaking research in a platform and a poster presentation at the 2017 American Society of Clinical Oncologists (ASCO) Annual Meeting. These presentations will shed light on hereditary pancreatic, thyroid and breast and colon cancers and demonstrate that a larger segment of the population may benefit from genetic testing than is reported using current genetic testing guidelines.

The platform presentation, “Germline Genetic Testing in Unselected Pancreatic Ductal Adenocarcinoma (PDAC) Patients,” reports findings from Ambry’s collaborative study with University of Pittsburgh, Beth Israel Deaconess Medical Center and HonorHealth/TGen. The presentation will be given by Dr. Mary Linton Bounetheau Peters, a 2017 winner of the Conquer Cancer Foundation Merit Award. Findings from this study illustrate the limitation of current genetic testing guidelines for pancreatic cancer, potentially missing up to 30% of those with a higher cancer risk. Importantly, 11.3% of unselected PDAC patients do in fact carry a germline mutation in a gene that may increase cancer risk – including 6.6% with mutations in known PDAC genes and 4.3% in genes not previously linked to PDAC.

Accurate identification of genetic mutations associated with pancreatic cancer has important implications for the treatment as well as surveillance and prevention for family members of patients with this aggressive, devastating cancer,” said Nadine M. Tung, M.D., Associate Professor, Medicine, Harvard Medical School and Director, Cancer Risk and Prevention program, Beth Israel Deaconess Medical Center. “Using Ambry’s comprehensive cancer panel tests, results from this study demonstrate that current clinical guidelines genetic testing for pancreatic cancer patients are insufficient and suggest that the criteria for genetic testing for pancreatic patients may need to be broadened.”

Even in cases where mutations occurred in genes not associated with the patient’s cancer diagnosis, the results may still impact treatment decisions and risk management for other cancers, including earlier and more frequent screening, chemoprevention and other measures.

The combined contributions to the investigation from Ambry and our research partners made it possible to address our unique goal of understanding genetic risk in an unselected pancreatic cancer cohort. We look forward to continuing data collection during the study follow up period and are committed to reporting additional findings that may be readily translated to the clinic, benefiting patients and their families,” said Ambry’s Manager of Clinical Collaboration, Virginia Speare, PhD, CGC.

Ambry is also presenting a poster, and has two research studies published in the JCO supplement that will be distributed at the conference. The poster, entitled “Germline mutations in cancer predisposition genes among patients with thyroid cancer,” reveals that 11.1% of thyroid cancer patients referred for multi-gene cancer panel testing had gene mutations, even in the absence of other primary cancer diagnoses. The mutations were more common among patients with both thyroid and breast cancer compared to those with thyroid cancer alone, which may indicate that this subpopulation is at higher risk for both.

The JCO supplement publications, “Exploring a possible relationship of germline CDKN2A mutations with breast cancer in a multi-gene panel cohort” and “Comparing actionable results for breast and colorectal cancer patients across multigene panels,” illustrate how multi-gene panel testing is advancing the field of genetics and the importance of continuously updating guidelines so that at-risk patients are not excluded from genetic testing.

Ambry presentations at ASCO 2017 are listed below. For more information on Ambry’s genetic testing for hereditary cancer syndromes, visit: http://www.ambrygen.com/hereditary-cancer-panels.

Platform Presentation

Title: Germline Genetic Testing in Unselected Pancreatic Ductal Adenocarcinoma (PDAC) Patients (Abstract 1501)
Date: Monday, June 5, 2017: 8:12 – 8:24 a.m. CDT
Location: S404: Cancer Prevention, Hereditary Genetics, and Epidemiology
Presenter: Mary Linton Bounetheau Peters

Poster Presentation

Title: Germline mutations in cancer predisposition genes among patients with thyroid cancer (Abstract 1581)
Date: Monday, June 5, 2017: 1:15 – 4:45 p.m. CDT
Location: Hall A: Cancer Prevention, Hereditary Genetics, and Epidemiology
Presenter: Mary Helen Black

ABOUT AMBRY GENETICS®

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 www.ambrygen.com.

Contacts

Ambry Genetics
Aaron Schmidt
Corporate Communications Manager
aschmidt@ambrygen.com
949-457-4679

Release Summary

Ambry will show data that up to 30% of cancer risk carriers are missed by testing guidelines at the 2017 ASCO Meeting. The studies focus on hereditary pancreatic, thyroid, breast and colon cancers.

Contacts

Ambry Genetics
Aaron Schmidt
Corporate Communications Manager
aschmidt@ambrygen.com
949-457-4679