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September 07, 2013

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.

San Francisco, CA, September 07, 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. 

About Invitae

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

Press Contact:
Paul Laland
Invitae, Inc.



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