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August 12, 2014

Invitae Offers PALB2 Testing, Providing Clinicians with a Reliable, Fast, Affordable Option for Patients

SAN FRANCISCO - August 12, 2014 - Invitae Corporation, a genetic information company, offers PALB2 testing, providing clinicians with a reliable, fast and affordable option for their cancer patients. Available with a turnaround time of approximately three weeks, the test includes full gene sequencing and deletion/duplication analysis. The test is globally available and is priced at $1,500 in the United States.

A recent multinational study provides compelling evidence that PALB2 is a high-risk breast cancer susceptibility gene (Antoniu et al, N Engl J Med 2014; 371:497-506; DOI: 10.1056/NEJMoa1400382). This landmark study estimates the lifetime breast cancer risk for female carriers of truncating mutations in this gene to be between 33%–58%, depending on the specific family history of the patient. Due to the high lifetime risk for breast cancer in PALB2 loss-of-function mutation carriers, the authors support the inclusion of PALB2 when testing patients from high-risk breast cancer families, alongside BRCA1 and BRCA2.

“This is an important study. Although mutations in the PALB2 gene are rare, the impact of carrying the gene mutation is profound and it is important that women be aware of their genetic status. We have been studying women with PALB2 mutations and based on early data, we are concerned that the cancers these women develop might be unusually aggressive. It may be that these women will require a treatment plan that is specific for their individual needs,” said Dr. Steven Narod of the Women’s College Research Institute in Toronto. “We have now embarked on an international study to collect treatment information and outcomes for 500 women with breast cancer and PALB2 mutation who will be followed for ten years.”

In response to this research, PALB2 has just been added to Invitae's High-Risk Hereditary Breast Cancer panel and is also included within the Women's Hereditary Cancer and Hereditary Cancer Syndromes panels. In addition, PALB2 can be added to any other Invitae test, such as BRCA1/BRCA2 testing, at no additional charge. It may also be ordered as a single-gene test for those patients who have tested negative for BRCA1/2 but have personal or family history strongly suggestive of a hereditary cancer risk.

About Invitae Corporation

Invitae is a genetic information company whose mission is to bring genetic information into routine medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene diagnostic tests today. Invitae has raised $87 million from investors, including Thomas McNerney Partners, Casdin Capital, Genesys CapitalGenomic Health, Inc. (NASDAQ: GHDX), and Redmile Group. For further information, please visit


Katherine Stueland

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