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

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

ALISO VIEJO, Calif.–(BUSINESS WIRE)–#AmbryGeneticsAmbry
(“Ambry”) and its collaborators at Beth Israel Deaconess
Medical Center (Boston, MA), University of Pittsburgh (Pittsburgh, PA),
and HonorHealth Research Institute (Scottsdale, AZ) today announce 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.1
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.2 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,
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

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

“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 engages in ongoing research, both internally and with
collaborators. For a listing of peer-reviewed research publications,
please visit here.


  1. National Cancer Institute. “SEER Stat Fact Sheets: Pancreas Cancer.”
    Available at
    Accessed June 24, 2016.
  2. American Cancer Society. “Pancreatic cancer risk factors.” Available
    Accessed June 24, 2016.


Ambry Genetics 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. For more
information about Ambry Genetics, visit


Ambry Genetics
Layla Shahmirzadi, MS, LCGC
Director of