ORLANDO, Fla., Feb. 17, 2017 /PRNewswire/ -- New research
suggests that a substantial fraction of patients with prostate
cancer and a positive family history are at high risk of an
inherited genetic mutation that might help inform their treatment
options. Among those men with prostate cancer meeting NCCN
guidelines for testing, these initial data support the concept that
particulars in the family history cannot be used to predict
pathogenic variants.
The research was presented at the 2017 Genitourinary Cancer
Symposium, February 16-18, in
Orlando, Florida. Patients in the
study, which was conducted by the Tulane Cancer Center in
New Orleans, were tested using a
commercially available panel of 25-79 cancer-related genes from
Invitae (NYSE: NVTA), one of the fastest growing genetic
information companies.
The study, Inherited pathologic mutations and family history
in patients with prostate cancer (Abstract #185), was designed
to find, evaluate, and characterize pathogenic mutations related to
DNA repair defects in prostate cancer patients, using both detailed
family history and germline genetic testing. The study screened 605
prostate cancer patients from Tulane Cancer Center for their
detailed family histories. Of those, 147 patients reported a family
history that met NCCN guidelines for genetic testing. Those 147
patients then underwent genetic testing using a commercially
available panel from Invitae of 25-79 cancer-related genes for
mutations and selected exonic deletions/duplications.
Approximately one in six of the patients tested (16.3%) were
found to have a pathogenic variant in a cancer-related gene while
42.9% showed no significant germline mutations and 40.8% were found
to have a germline variant of unknown significance (VUS). The
results show a significant fraction of patients with family history
exhibited pathogenic genetic changes, with the majority of
mutations found in the DNA repair genes. Additionally, in prostate
cancer, evidence continues to increase that genetic testing for
mutations in DNA-repair genes such as BRCA1 and BRCA2 can impact
the care of patients and the health of their families. For example,
if a prostate cancer patient is found to carry a mutation in a
DNA-repair gene, his close biological relatives may share that
mutation and be at increased risk for prostate, breast, ovarian,
and other cancers.
"Genetic information is increasingly impacting therapeutic
decisions for prostate cancer patients and their family members.
Genetic testing of family members can help identify those at risk
earlier and enable physicians to provide more proactive care," said
Oliver Sartor, MD, Laborde Professor
of Cancer Research at Tulane Cancer Center and one of the authors
of the study. "The findings indicate a significant yield of
mutations in patients with a family history. Given small family
sizes and a frequent lack of information about relatives, we
suspect that broader genetic testing of prostate cancer patients
may be warranted, beyond what current guidelines recommend, as
mutations may be found in patients without a known family history
of cancer."
The study presented at 2017 Genitourinary Cancers
Symposium builds on earlier research published in 2016 in the
New England Journal of Medicine demonstrating that inherited
DNA-repair gene defects are more common than expected. In that
study, mutations found in multiple DNA repair genes were
significantly increased in metastatic prostate cancer patients.
Importantly, the DNA-repair manuscripts in prostate cancer clearly
show a family history of prostate cancer is not always relevant in
determining risk. The NEJM study suggested that broader testing of
patients with metastatic prostate cancer without regard to family
history could increase the yield of actionable mutations
identified. (N Engl J Med 2016;375:443-53)
"Our understanding of the role of genetic changes in influencing
a man's risk of developing prostate cancer has deepened, just as it
has for a woman's risk for breast and ovarian cancer. We also know
genetic information can help predict which men are more likely to
develop aggressive disease," said Robert
Nussbaum, MD, chief medical officer of Invitae. "A broad
hereditary cancer panel can provide clinicians with information on
clinically significant genes, helping identify men at greater risk
for prostate cancer who should undergo more extensive surveillance,
thereby allowing the cancer to be detected at earlier stages.
Through cascade testing in families, finding the first such
mutation in a man with prostate cancer can alert other relatives,
men and women, of a substantially higher risk for breast, ovarian,
prostate, and pancreatic cancer. Finally, there is the possibility
of providing better personalized therapies for those with this
potentially lethal disease by highlighting treatments that target
tumors deficient in homologous recombination repair pathways."
Comprehensive genetic testing for prostate cancer
Invitae has more experience with hereditary cancer testing in
prostate cancer than most other laboratories due to its broad,
comprehensive menu and flexible ordering approach. The Invitae
Prostate Cancer Panel analyzes up to 14 genes that are associated
with a hereditary predisposition to prostate cancer. In addition,
Invitae's offers its 42-gene Common Hereditary Cancers Panel and
its 80-gene Multi-Cancer Panel for clinicians seeking a broader
look at their patient's genetic risk. Invitae provides results in
as few as 10 calendar days (14 days on average).
Research published in the Journal of Clinical Oncology
has shown BRCA1 and BRCA2 mutations are both known to
increase the lifetime risk of prostate cancer by about 20%.
HOXB13 mutations are associated with an up to 60% lifetime
risk of prostate cancer, according to another study. In addition,
African American men with prostate cancer may be more likely to
have germline mutations in the BRCA1 and BRCA2 genes
than Caucasian men with prostate cancer, as presented during the
111th Annual Scientific Meeting of the American Urological
Association in 2016. According to the American Cancer Society,
nearly three million men have been diagnosed with prostate cancer
in the United States.
To help support clinicians and their patients, Invitae offers
its clinicians access to its Clinical Consult Service, where
Invitae's expert team of medical geneticists and genetic counselors
provide support through the entire testing process to select the
right test, clarify results, and review individual patient cases at
no additional charge. Invitae also makes genetic counseling
services available as needed.
About Invitae
Invitae Corporation's (NYSE: NVTA) mission is to bring
comprehensive genetic information into mainstream medical practice
to improve the quality of healthcare for billions of people.
Invitae's goal is to aggregate most of the world's genetic tests
into a single service with higher quality, faster turnaround time,
and lower price than many single-gene and panel tests today. The
company currently provides a diagnostic service comprising hundreds
of genes for a variety of genetic disorders associated with
oncology, cardiology, neurology, pediatrics, and other rare disease
areas. Additionally, the company has created a Genome Network to
connect patients, clinicians, advocacy organizations, researchers,
and drug developers to accelerate the understanding, diagnosis, and
treatment of hereditary disease. For more information, visit our
website at invitae.com.
Safe Harbor Statements
This press release contains forward-looking statements within
the meaning of the Private Securities Litigation Reform Act of
1995, including statements relating to genetic information
increasingly impacting therapeutic decisions for prostate cancer
patients; that genetic testing of family members can help identify
those at risk earlier and enable physicians to provide more
proactive care and personalized therapies; and the benefits of a
broad hereditary cancer panel. Forward-looking statements are
subject to risks and uncertainties that could cause actual results
to differ materially, and reported results should not be considered
as an indication of future performance. These risks and
uncertainties include, but are not limited to: risks associated
with the company's ability to use rapidly changing genetic data to
interpret test results accurately, consistently, and quickly; the
company's history of losses; the company's need to scale its
infrastructure in advance of demand for its tests and to increase
demand for its tests; the company's ability to develop and
commercialize new tests and expand into new markets; the risk that
the company may not obtain or maintain sufficient levels of
reimbursement for its tests; laws and regulations applicable to the
company's business, including state licensing requirements and
potential regulation by the Food and Drug Administration; and the
other risks set forth in the company's filings with the Securities
and Exchange Commission, including the risks set forth in the
company's Quarterly Report on Form 10-Q for the quarter ended
September 30, 2016. These
forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae
Corporation. All other trademarks and service marks are the
property of their respective owners.
Source: Invitae Corporation
Contact:
Laura D'Angelo
pr@invitae.com
314-920-0617
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