Susan Miller

USA TODAY

Doctors can now give women with the BRCA1 and 2 genes a clearer genetic picture of their risk for developing ovarian and breast cancer by tapping a database that in its first year has helped scientists parse hundreds of genetic variations.

Researchers will announce the result of the initiative's first year Wednesday at the 6th International Biennial Meeting of Human Variome Project Consortium (HVP6) at UNESCO headquarters in Paris.

People who have the BRCA1 or BRCA2 genes are at a higher risk for the cancers. Screening for the gene got worldwide attention in March 2015 when actress and filmmaker Angelina Jolie announced that she had the BRCA1 gene and had undergone surgery to remove her ovaries and fallopian tubes. Two years earlier, she opted for a preventive double mastectomy. Jolie's mother died of ovarian cancer at 56.

The BRCA Share database, which collects information on the genetic variants of the two BRCA genes from patients, enables doctors to better identify those people more likely to develop the hereditary cancers and help craft more informed prevention and treatment plans. The genes, if inherited in a mutated form, can put carriers at a higher risk of breast or ovarian cancer.

The effort pools patients' BRCA genetic data from public and private labs that join and become members of the database, which was founded by U.S.-based Quest Diagnostics and Inserm, a French public health institute. U.S.-based LabCorp was the first commercial participant.

Since the launch, nearly 1,000 scientists from 49 countries registered to access BRCA Share for research purposes.

The data include 375 BRCA gene variants whose role scientists previously didn't know. Researchers found 93% of the mutated genes don't signal a higher risk of cancer. The remaining 7% are classified as "pathogenic," or likely to cause disease. Overall, the BRCA Share database contains more than 6,200 variants, not all of which have been classified.

Previously, a lab could identify a genetic variation, but could not always pinpoint whether a particular form of the mutated gene indicated a cancer risk. Now, participating commercial labs can tell doctors more specifically which form of the gene a patient has. Patients can weigh the relative risks and opt for a variety of approaches, such as increased screening, mastectomy or removal of ovaries.

“We created BRCA Share to accelerate BRCA science and bring clarity to BRCA patient testing, and in short order, that’s exactly what this initiative has done,” said Charles Strom, senior medical director of genetics for Quest.

Marcia Eisenberg, senior vice president and chief scientific officer for LabCorp Diagnostics, the first commercial participant in the project, said the "growth in knowledge" is significant. For the patient, she said, “how powerful it is to have clear information.”

The database will continue to churn out new insights, Eisenberg said. She notes that genetic counseling for patients should continue to be an important part of the process when analyzing test results.

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