Invitae Announces Results of Hereditary Breast Cancer Study in Collaboration
with Stanford University
Presentation at ASCO Breast Symposium demonstrates that next-generation DNA
sequencing technology accurately identifies BRCA 1 and 2 mutations and
multi-gene testing adds value beyond BRCA 1 and 2 for cancer patients
ASCO Breast Symposium 2013
SAN FRANCISCO -- September 7, 2013
Invitae, Inc., a genetic information company, today announced the results of a
study conducted in collaboration with Stanford University assessing hereditary
breast and ovarian cancer risk using a multi-gene next-generation sequencing
panel. The results showed that analysis of BRCA1/2 mutations produced results
concordant with prior clinical testing and also identified additional
pathogenic variants in genes other than BRCA1/2. The study was presented by
Allison Kurian, M.D., assistant professor of Medicine (Oncology) and Health,
Research and Prevention and the associate director of the Breast Cancer
Genetics Clinic at Stanford, during the Poster Discussion Session A at the
American Society of Clinical Oncology (ASCO) Breast Symposium, September 7,
2013 in San Francisco, CA.
In this study, authored by James Ford, M.D., associate professor of Medicine
(Oncology), Pediatrics (Medical Genetics), and of Genetics and director of the
Stanford Cancer Genetics Clinic (Abstract #07, Evaluation of a cancer gene
sequencing panel in a hereditary risk assessment clinic), germline DNA samples
were sequenced from 198 women: 174 participants had breast cancer and 57
carried known BRCA1/2 mutations. Analytic results for BRCA1/2 sequencing were
concordant with prior clinical testing. Twenty-one variants designated as
potentially pathogenic were observed in genes other than BRCA1/2, including
ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1 and SLX4. Fourteen
participants carried variants that warranted consideration of a change in
care; they were notified and invited for confirmatory testing and counseling.
One patient, a 45-year-old woman, was found to carry a pathogenic MLH1
mutation and underwent a colonoscopy, which resulted in a tubular adenoma
being identified and removed. The multi-gene next-generation sequencing panel
identified the cancer risk five years before the patient’s first recommended
routine colonoscopy. Another patient had a risk-reducing surgery to remove an
ovary and fallopian tube (salpingo-oophorectomy) after the detection of a
BRCA1 deletion. The study found that disclosure of genetic testing results to
patients was feasible and well tolerated.
These findings show that by using a multi-gene panel, physicians are able to
identify important additional mutations beyond BRCA1 and BRCA2 that lead to
changes in patients’ treatment and surveillance regimens. Invitae believes
that for genetic testing to be beneficial it must provide clinically relevant
and actionable data. The variants detected in this study resulted in a cancer
preventing treatment for at least one patient, validating this multi-gene
approach to genetic testing.
“The results of this research study will be useful in the development of
future product releases for hereditary cancer,” said Randy Scott, from
Invitae. “The model for genetic testing is rapidly changing as next generation
DNA sequencing allows us to provide vastly more genetic information at lower
cost than ever before. This is the first of multiple studies we are conducting
to establish the value of expanded genetic testing.”
Invitae is currently engaged in an early access commercial program for its
most recent product with over 50 institutions worldwide. The company does not
currently provide BRCA testing to patients in the U.S. but plans to add BRCA1
and BRCA2 testing in future product releases.
Specializing in genetic diagnostics for hereditary disorders, Invitae’s
mission is to make multi-use genetic testing more accessible and affordable
than ever before.
The company is pursuing a strategy over the next several years to aggregate
all the world's medical genetic tests (>3,000 known Mendelian conditions) into
a single assay at a lower cost than most single gene tests today.
This capability is increasingly enabled by the rapid advancements in DNA
sequencing technology and will be advanced by Invitae’s investment in building
a database of clinically-relevant genetic information. Invitae hopes to lead
the way from an era of genetic scarcity to genetic abundance to significantly
improve healthcare worldwide.
Invitae has raised $47 million from investors, including Thomas, McNerney &
Partners, Genomic Health, Inc. (GHDX), Genesys Capital and Randy Scott. For
further information, please visit www.invitae.com.
Paul Laland, 415-519-6610
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