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December 10, 2014

Invitae and collaborators present data at San Antonio Breast Cancer Symposium demonstrating use of multi-gene panels for reliable risk assessment in hereditary breast/ovarian cancer patients

Invitae’s platform demonstrates high concordance with traditional diagnostic tests for BRCA1 and BRCA2 and increased yield of clinical findings in hereditary cancer risk assessment.

SAN ANTONIO – December 10, 2014 – Invitae Corporation, a genetic information company, announced the presentation of two scientific studies at the 37th Annual San Antonio Breast Cancer Symposium: “Clinical Evaluation of Multi-gene Testing for Hereditary Breast and Ovarian Cancer” (Poster P4-12-04) and “Technical Evaluation of Multi-gene Testing for Heredity Breast and Ovarian Cancer” (Poster P4-12-07). 

The studies were both conducted in collaboration with the Massachusetts General Hospital and the Stanford University Cancer Institute and utilized Invitae’s next generation sequencing (NGS) based 29-gene hereditary cancer panel. This panel includes BRCA1 and BRCA2, as well as 27 other important genes related to hereditary cancer syndromes. Between these two studies, the Invitae multi-gene test panel was evaluated in 1,062 patients undergoing assessment for hereditary breast and ovarian cancer (HBOC). Most of these patients had previously received traditional testing for BRCA1 and/or BRCA2 by a different provider. There were also 43 reference samples included for a total study population of 1,105 individuals.

“These studies provide a representative view of the results that can be obtained from these types of diagnostic tests,” said Leif Ellisen, M.D., Ph.D., Program Director at the Center for Breast Cancer, Massachusetts General Hospital Cancer Center, Professor of Medicine at Harvard Medical School, and a Principal Investigator on the two studies. “Multi-gene hereditary cancer tests can offer comparable performance to traditional BRCA1/2 genetic testing, while potentially providing additional clinical benefits to doctors and patients seeking cancer risk assessment.”

Poster P4-12-04 by Dr. Ellisen and colleagues focuses on the clinical implications of test panels on a representative population of 735 patients prospectively recruited under HBOC risk assessment guidelines. Approximately 40% more patients had a deleterious mutation found by the Invitae test panel than had been reported previously by BRCA1/2 testing alone. Most (approximately 80%) of these non-BRCA mutations fit the spectrum of disease seen in the patient and his or her family, suggesting that these are not incidental findings. Most importantly, the study found that approximately 70% of these mutations would potentially warrant a change in care for the patient or his or her family. Possible management changes varied; in most cases, additional testing or screening changes would be indicated, while in a few cases surgical interventions might be considered.

Poster P4-12-07 by Stephen Lincoln, Ph.D. and colleagues examines the technical performance of the Invitae test compared to the previous, traditional testing. 750 DNA alterations in the larger set of 1,105 individuals could be directly compared between the two tests and 100% analytical agreement was observed. Importantly, this set included a large number of alterations previously thought to be technically challenging for NGS tests, but which could be accurately detected using the Invitae technology. These challenging cases represented a meaningful fraction (13.4%) of the reportable deleterious mutations. Clinical test interpretations were compared between Invitae and the previous laboratory, and 99.8% agreement was seen for BRCA1/2 reports.

“We are pleased by the performance of Invitae’s next generation sequencing platform in replicating BRCA1 and BRCA2 results across a large number of patients and in further demonstrating the utility of our multi-gene cancer panel in assessing hereditary cancer risk” said Randy Scott, Ph.D., CEO of Invitae. “We believe that the low cost and economy of scale provided by next generation sequencing will allow us to substantially decrease the average cost of hereditary cancer testing over the coming years and allow us to make early risk assessment more affordable and accessible to families around the world.”

The authors of these two studies believe that genetic information is more powerful when shared and that evidence used in clinical care should be available for peer review. To help improve both scientific understanding and patient care globally, all of the Invitae results from these two studies have been submitted to Clinvar, a database operated by the National Center for Biotechnology Information, as well as ClinVitae, Invitae’s database of clinically-observed genetic variants aggregated from public sources.

About Invitae

Based in San Francisco, Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Currently focused on hereditary cancers, 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 tests today. The company currently provides a single diagnostic test comprising over 200 genes for a variety of genetic disorders associated primarily with cancer, but also covering cardiology, hematology, neurology and pediatrics. For further information, please visit


Katherine Stueland

Mindy Lizmi
W2O Group

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