Background

The goal of SCRP is to put variants in BRCA1 and BRCA2 that have been reported by Myriad Genetics, Inc. to cancer genetics or hereditary cancer clinics in the US since January 2006 into ClinVar. This date was chosen because it is when the company stopped sharing their variant information with the Breast Cancer Information Core (or BIC) database. The BIC was established as an open-access international collaboration for hosting an online BRCA1/2 mutation database, currently located at the National Human Genome Research Institute. All data obtained through the effort described here and submitted to ClinVar would automatically also be submitted to the BIC.

BRCA1 and BRCA2 arguably represent the most thoroughly sequenced genes in all of human genetics. Because of the clinical importance of BRCA1 and BRCA2, the previous restrictions on who can do clinical testing in the United States, and the loss of open access to the variant database maintained by Myriad Genetics, Inc. for the past 8+ years, BRCA1/2 represents a special case where we are seeking this information from the providers who ordered the test in addition to the laboratories doing the testing.

The Sharing Clinical Reports Project is a not-for-profit grass roots effort launched by Robert Nussbaum, MD, FACMG,  FACP, Professor of Medicine at the University of California San Francisco.   This project is supported by efforts at the Laboratory for Molecular Medicine at the Partners HealthCare Personalized Medicine (Heidi Rehm, PhD, FACMG, Danielle Metterville, MS, CGC, Carly Mailly, BA, Dawn Lee, MS, CGC and Karl Benz, BA) and other private funding.