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New BRCA Mutations Discovery

Recent discoveries indicate there may be many more BRCA gene mutations than previously thought, and this may affect how we test for inherited breast cancer in the future.

A public-private partnership, called BRCA Share™, announced in June that it has found a number of new and previously unrecognized variants of the BRCA gene.

According to the organization’s press release, there are now 6,200 known variants in the BRCA genes and of these, about 20 percent are believed to cause cancer, while most other variants are categorized as “neutral,” or probably not able to confer susceptibility to cancer. The group has made these data on the variations of mutations in the BRCA gene (leading to hereditary breast, ovarian and other cancers) available for research studies.

The new information expands the number of mutations to be tested for in breast cancer patients and will hopefully contribute to better-informed patient management strategies. Patients carrying these newly recognized BRCA mutations may be counseled to take surgical or drug prevention.

The BRCA Share™ initiative is considered both public and private because it involves a collaboration between private lab companies Quest and LabCorp and the French National Institute of Health, or INSERM, as well as its associated laboratories.

The results of this data sharing effort benefit both the industry partners but more importantly the global medical community and patients being tested for the inherited cause-causing genes.

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