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- Posted Tuesday January 20, 2015
Ovarian cancer study led by TGen featured by world's leading organization of oncologists, ASCO
Discovery of 'genetic superhighway' mutation expected to lead to new treatments for disease that strikes young women and girls
PHOENIX, Ariz. - Jan. 20, 2015 - A
groundbreaking TGen-led discovery of the likely genetic cause of an
ovarian cancer that strikes young women and girls
is featured today in the annual report of the American Society of
Clinical Oncology (ASCO).
Developed under the guidance of an expert editorial board,
Clinical Cancer Advances (CCA) is an independent annual review of
the year's major achievements and emerging trends in clinical
cancer research and care.
The discovery by an international team led by TGen, the
Translational Genomics Research Institute, is included in
Clinical Cancer Advances 2015: ASCO's Annual Report on Progress
Against Cancer. With more than 35,000 members, ASCO is the
world's leading professional oncology societycommitted to
conquering cancer through research,education, prevention, and
delivery of high-quality patientcare.
The study, "Small cell carcinoma of the ovary,
hypercalcemic type (SCCOHT), displays frequent inactivating
germline and somatic mutations in SMARCA4," was initially published
in the renowned scientific journal, Nature Genetics.
Nearly all the patients in this study lost the function of a key
gene called SMARCA4, revealing a "genetic superhighway" that drives
this disease.
This type of cancer usually is not diagnosed until it is in its
advanced stages. It does not respond to standard chemotherapy, and
65 percent of patients die within 2 years. It has affected girls as
young as 14 months, and women as old as 58 years - with a mean age
of diagnosis of only 24 years old. In this study, the youngest
patient was 9 years old.
"Inclusion of our study in ASCO's annual report underlines the
importance of this discovery and the anticipation of developing new
treatment options," said Dr. Jeffrey Trent, TGen President and
Research Director and the study's senior author. "The correlation
between mutations in SMARCA4 and the development of SCCOHT is
simply unmistakable."
By applying its groundbreaking work in genomics, TGen led a study
that included: Mayo Clinic in Arizona, Scottsdale Lincoln Health
Network, Johns Hopkins University, St. Joseph's Hospital and
Medical Center, Evergreen Hematology and Oncology, Children's
Hospital of Alabama, the Autonomous University of Barcelona,
British Columbia Cancer Agency, University of British Columbia, and
the University Health Network-Toronto.
"It is a great honor to have our work highlighted by ASCO as one
of the year's biggest cancer research advances," said Dr.
Aleksandar Sekulic, M.D., Ph.D., a physician-scientist with a joint
appointment as Assistant Professor at TGen and the Mayo Clinic in
Arizona, and also an author of the study. "But more importantly, we
hope this work will benefit the patients suffering from SCCOHT.
Identifying the genetic driver in SCCOHT is key to understanding
the disease mechanisms, which in turn may help us develop better
treatments for the patients afflicted with this cancer."
Much of the work in this study was inspired by the memory of Taryn
Ritchey, a 22-year-old TGen patient who in 2007 lost her battle
with ovarian cancer, the 5th leading cause of
cancer death among American women.
"We set out to uncover any small sliver of hope for women
afflicted with this rare cancer.What we found instead are the
nearly universal underpinnings of SCCOHT," said Dr. Pilar Ramos, a
TGen Postdoctoral Fellow and the study's lead author. "By
definitively identifying the relationship between SMARCA4 and
SCCOHT, we have high confidence that we have set the stage for
clinical trials that could provide patients with immediate
benefit."
"The past decade of research has taught us that cancer is a
vastly complex disease. Profound patient-to-patient variability has
made treatment and diagnosis for many tumor types at times very
difficult. In this case, however, we have found a single genetic
event driving SCCOHT in nearly every patient," said Dr. William
Hendricks, a TGen Staff Scientist and another author of the
study.
The ASCO report will be published online in the Journal of
Clinical Oncology at http://www.jco.org,
and online with supplemental resources at www.cancerprogress.net.
The TGen-led study was supported by grants from: Lynn and Foster
Friess, the Marsha Rivkin Center for Ovarian Cancer Research, the
Anne Rita Monahan Foundation, the Ovarian Cancer Alliance of
Arizona, the Small Cell Ovarian Cancer Foundation, and
philanthropic support to the TGen Foundation. Further support was
provided by the Terry Fox Research Initiative's New Frontiers
Program in Cancer, and the Canadian Institutes of Health
Research.
For more information about TGen's research into SCCO, or to
participate in a future study, visit: www.tgen.org/scco.
# # #
About TGen
Translational Genomics Research Institute (TGen) is a Phoenix,
Arizona-based non-profit organization dedicated to conducting
groundbreaking research with life changing results. TGen is focused
on helping patients with cancer, neurological disorders and
diabetes, through cutting edge translational research (the process
of rapidly moving research towards patient benefit). TGen
physicians and scientists work to unravel the genetic components of
both common and rare complex diseases in adults and children.
Working with collaborators in the scientific and medical
communities literally worldwide, TGen makes a substantial
contribution to help our patients through efficiency and
effectiveness of the translational process. For more information,
visit:www.tgen.org.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to medical
research and education, and providing expert, whole-person care to
everyone who needs healing. For more information, visit http://www.mayoclinic.org/about-mayo-clinic
or http://newsnetwork.mayoclinic.org/.
