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BRCA database now holds data on 6200 variants

06 June 2016

By Dr James Heather

Appeared in BioNews 854

After one year of existence, the BRCA Share database has released details on its progress in collating information on variants of the BRCA1 and BRCA2 genes, which can carry increased risk of developing breast, ovarian and other cancers.

The database, which is run by the French research institute Inserm and Quest Diagnostics, currently contains information on over 6200 different variants. This is 30 percent more than was held by BRCA Share's predecessor – the Inserm-run Universal Mutation Database.

The different versions of the BRCA genes stored are characterised by whether or not they are likely to increase the risk of disease, based on the progress of patients whose DNA was found to contain them.

By classifying recently discovered variants and gathering more data on previously known ones, the project has increased the number of classified pathogenic (disease-causing) or likely-pathogenic variants by 20 per cent, to around 1800. A large number are classified as benign as they are deemed unlikely to influence the chance of developing tumours.

Over the course of the last year, researchers were able to reclassify 93 percent of 375 variants previously tagged as being of unknown significance as benign, or likely benign, while only seven percent were classified as pathogenic or likely pathogenic.

By gathering these DNA sequences, and associated clinical and epidemiological information, Inserm and Quest Diagnostics say they hope to increase understanding of which genetic variants contribute to disease, and how, and also to focus on variants that are currently of uncertain medical significance. The idea is that this will provide a stronger basis on which to develop diagnostic tests which can more accurately predict an individual's chance of risk and help doctors pick the most appropriate treatments for patients.

'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 Dr Charles Strom, vice president of Quest Diagnostics. 'This initiative benefits anyone in the global medical community seeking robust analysis of BRCA genetics based on shared pooling of clinical-grade data and expertise.'

Non-commercial researchers and organisations can access the information for free, by agreeing to the terms of the initiative, while commercial bodies need to pay access costs on a sliding scale depending on their size.

Since its launch, just under 1000 researchers from 49 countries have made use of the database, although only one other commercial entity has joined – LabCorp, another American-based diagnostics company.

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