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A woman and her young child walk through a "mini-field of women" planted in support of the Breast Cancer Network Of Australia on May 15, 2016 in n Melbourne. The field consisted of pink lady silhouettes representing the women diagnosed with breast cancer this year.(Photo: Scott Barbour/AFL Media, Getty Images)
Doctors can now give women with the BRCA1 and 2<span style="color: Red;">*</span>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<span style="color: Red;">*</span>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<span style="color: Red;">*</span>database, which collects information on the genetic variants of the two BRCA genes from patients,<span style="color: Red;">*</span>enables<span style="color: Red;">*</span>doctors to better identify those people<span style="color: Red;">*</span>more likely to develop the hereditary cancers and help craft more informed prevention and treatment plans.<span style="color: Red;">*</span>The genes,<span style="color: Red;">*</span>if inherited in a mutated form, can put<span style="color: Red;">*</span>carriers at a higher risk of breast or ovarian cancer.
The<span style="color: Red;">*</span>effort pools patients' BRCA genetic data from public and private labs that join and become members of the database, which was<span style="color: Red;">*</span>founded by U.S.-based Quest Diagnostics and Inserm, a French public health institute.<span style="color: Red;">*</span>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.<span style="color: Red;">*</span>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.<span style="color: Red;">*</span>Overall, the BRCA Share<span style="color: Red;">*</span>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<span style="color: Red;">*</span>indicated a cancer risk.<span style="color: Red;">*</span>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<span style="color: Red;">*</span>increased screening,<span style="color: Red;">*</span>mastectomy<span style="color: Red;">*</span>or removal of<span style="color: Red;">*</span>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<span style="color: Red;">*</span>Charles Strom, senior medical director of genetics for Quest.
Marcia Eisenberg, senior vice president and chief scientific officer for LabCorp<span style="color: Red;">*</span>Diagnostics, the first commercial participant in the project, said<span style="color: Red;">*</span>the "growth in knowledge" is significant.<span style="color: Red;">*</span>For the patient, she said, “how powerful it is to have clear information.”
The database<span style="color: Red;">*</span>will continue to churn out new insights, Eisenberg said. She notes that genetic counseling for patients should continue to be<span style="color: Red;">*</span>an important part of the process when analyzing test results.
Follow Miller on Twitter @susmiller
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