-
- Posted Sunday March 23, 2014
TGen-led study discovers genetic cause of rare type of ovarian cancer
Scientific breakthrough could lead to new cancer treatments; study inspired by memory of 22-year-old patient
PHOENIX, Ariz. - March 23, 2014 - The cause of
a rare type of ovarian cancer that most often strikes girls and
young women has been uncovered by an international research team
led by the Translational Genomics Research Institute (TGen),
according to a study published online today by the renowned
scientific journal, Nature Genetics.
By applying its groundbreaking work in genomics, TGen led a study
that included: Scottsdale Healthcare, Mayo Clinic, 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.
The findings revealed a "genetic superhighway" mutation in a gene
found in the overwhelming majority of patients with small cell
carcinoma of the ovary, hypercalcemic type, also known as
SCCOHT.
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 only 24 years old. In this study, the youngest patient was 9
years old.
"This is a thoroughly remarkable study. Many genetic anomalies can
be like a one-lane road to cancer; difficult to negotiate. But
these findings indicate a genetic superhighway that leads right to
this highly aggressive disease," said Dr. Jeffrey Trent, President
and Research Director of TGen, and the study's senior author. "The
correlation between mutations in SMARCA4 and the development of
SCCOHT is simply unmistakable."
Dr. Trent added that while the breakthrough is for a relatively
rare cancer, discovering the origins of this type of ovarian cancer
could have implications for more common diseases.
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.
"Taryn would be incredibly excited about this amazing new study,
and she would be glad and thankful that other young women like her
might now be helped because of TGen's ongoing research," said
Taryn's mother Judy Jost of Cave Creek, Ariz. "My daughter never
gave up, and neither has TGen."
The SMARCA4 gene - previously associated with lung, brain
and pancreatic cancer - was the only recurrently mutated gene in
the study's samples. The implications of this discovery, therefore,
may be widespread.
"The findings in this study represent alandmark in the
field. The work identifies SMARCA4 mutations as the culprit, and
most future research on this disease will be based on this
remarkable discovery,"said Dr. Bert Vogelstein, Director of
the Ludwig Center at Johns Hopkins University, Investigator at the
Howard Hughes Medical Institute, and pioneer in the field of cancer
genomics. He did not participate in the study but is familiar with
its findings.
"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.
"We have shown that loss of SMARCA4 protein expression is
extremely specific to SCCOHT and can facilitate the diagnosis of
SCCOHT," said Dr. Anthony N. Karnezis, a fellow at British Columbia
Cancer Agency in Vancouver and one of the study's authors.
"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 Pilar Ramos, a
TGen Research Associate, 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."
In a scientific rarity, two other studies with similar results
also were to be published today by Nature Genetics,
producing immediate validation and reflecting a scientific
consensus that usually takes months or even years to
accomplish.
The TGen-led study was supported by grants from: Foster and Lynn
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
cutting-edge genomic research to accelerate breakthroughs in
healthcare. 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]