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Ambry Genetics and Nationwide Collaborators Begin Prospective Multi-Site Study to Identify Hereditary Pancreatic Cancer

August 4, 2016
Edited For Style and Length

Ambry’s Multi-Gene Testing Used to Determine Mutation Prevalence in Pancreatic Cancer Patients Unselected for Family History

Ambry Genetics and its collaborators at HonorHealth Research Institute (Scottsdale, AZ), Beth Israel Deaconess Medical Center (Boston, MA), and University of Pittsburgh (Pittsburgh, PA), announced a prospective multi-site research study aimed to determine mutation prevalence, as well as psychological assessment and long-term follow up for treatment and care for pancreatic cancer patients with a hereditary predisposition to the disease. This study will gather valuable data for an underrepresented group of patients diagnosed with cancer carrying an extremely high mortality rate.

Pancreatic cancer represents 3.1% of all new cancer cases in the U.S., with only 7.7% of people surviving 5 years or more after their diagnosis. Several genetic syndromes caused by inherited gene mutations may pose a risk for pancreatic cancer, leaving an underlying genetic mechanism to be the cause in ~10% of all pancreatic cancer. High risk gene mutations, such as those in the BRCA2 gene, are identified in families presenting with a constellation of tumors (including breast, ovarian, pancreatic cancer) but may go undetected in families with only a clustering of pancreatic tumors or isolated pancreatic cancer cases.

Nadine Muskatel Tung, MD, Beth Israel Deaconess Medical Center principal investigator, said, “Understanding the frequency and spectrum of germline mutations in patients diagnosed with pancreatic cancer may have profound implications for treatment as well as screening and prevention opportunities for their relatives.”

Multi-gene testing allows simultaneous analysis of relevant hereditary cancer genes. Individualized medical recommendations may also be made for that patient’s family members based on genetic test results, particularly with respect to pancreatic cancer screening and prevention.

This study is a multi-site prospective and observational plan to investigate the prevalence of germline mutations in patients who present consecutively for cancer care or consultation to selected tertiary centers at the time of a new diagnosis of pancreatic ductal adenocarcinoma (PDAC). 32 cancer susceptibility genes will be analyzed using Ambry’s CancerNext panel. This multi-gene next generation sequencing (NGS) and array CGH test included the following genes:
APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, and TP53.

“This study seeks to determine the role of genetic testing in an unselected pancreatic cancer population. Patients sometimes wonder why they get their cancer and the risk for their family members. This study plans to address this issue. Importantly, there is also the possibility that if certain mutations are identified in a pancreatic cancer patient that it could provide important information in regards to their treatment,” said Randall Brand, MD, University of Pittsburgh principal investigator.

HonorHealth Research Institute principal investigator Erkut Borazanci, MD, MS, said, “HonorHealth Research Institute is excited to be able to participate in this study. We are realizing more and more that genetics plays an important role in the development of cancer, including pancreatic cancer. This study may help us identify which families may be at risk for developing pancreatic cancer.”

The study has begun enrollment at two sites already and includes male and female patients between the ages of 18 and 89 years of age, diagnosed within the previous 12 weeks with histologically or cytologically confirmed PDAC Stage I to IV.

More details about the study may be found at ClinicalTrials.Gov (NCT02790944).

“Our research team at Ambry is honored to be working alongside such accomplished investigators at the participating clinical sites to improve understanding of hereditary pancreatic cancer,” said Virginia Speare, PhD, LCGC, sponsor investigator and Clinical Collaborations Specialist at Ambry.

Ambry Genetics engages in ongoing research, both internally and with collaborators. For a listing of peer-reviewed research publications. It is a privately-held healthcare company with the most comprehensive suite of genetic testing solutions for inherited and non-inherited diseases. Since 1999, Ambry has tested approximately nearly one million patient samples benefiting >94% of all U.S. patients covered by public and private insurers.

Ambry is dedicated to scientific collaboration by offering its rapidly growing database of anonymized genomic data (variant frequencies) free to the global medical research community to fulfill the promise of the human genome to cure or manage all human disease. Ambry is dedicated to the belief that human health should not be patented or owned, and genomic data should be freely shared so we can try to understand all human disease.

Related Information

PancNext: A Genetic Test For Heredtary Pancreatic Cancer
HonorHealth Research Institute
Virginia G. Piper Cancer Center at HonorHealth

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