An online portal and mobile phone app will help doctors make decisions about how to best treat patients with certain variants in the BRCA1 and BRCA2 genes.
Variants in BRCA1 and BRCA2 genes have been found to affect a person’s chances of developing breast cancer, ovarian cancer and some other diseases.
The resources were developed by an international team of researchers acting in collaboration with the Global Alliance for Genomics and Health (GA4GH), including researchers from the US National Cancer Institute (NCI) and Associate Professor Amanda Spurdle from QIMR Berghofer Medical Research Institute.
“There are thousands of individual genetic variants in the BRCA1 and BRCA2 genes,” Associate Professor Spurdle said.
“Some of these genetic variants increase a person’s risk of developing certain cancers, while others are harmless, and the effect of many other variants is still unknown.
“When doctors are giving patients advice, they need to know which gene variants a patient has, and if those variants increase the cancer risk.
“Until now, information about BRCA variants has been contained in many different databases and sources, with no single, authoritative resource to guide doctors in their decision making.
“The BRCA Exchange brings together the most up-to-date information and analysis from experts and researchers worldwide and makes it available to everyone for free.
“The fact that the BRCA Exchange provides a one-stop shop for expert-reviewed information means it will democratise access to this information for oncologists globally.
The BRCA Exchange includes information from existing clinical and population databases, as well as data from doctors, clinical laboratories, and researchers worldwide.
It currently includes information on more than 20,000 unique BRCA1 and BRCA2 variants.
More than 6,000 of the variants have been classified by a global expert panel arising from the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) – a consortium headed by Associate Professor Spurdle.
Approximately 3,700 of those classified variants are known to increase the risk of disease. The BRCA Exchange will continue to pool information on variants from data resources worldwide, which should lead to the inclusion of information about rare variants.
Dr Stephen J. Chanock from the US NCI said the project had yielded a meta-analysis of BRCA1 and BRCA2 variants collected from multiple sources to understand how experts annotate specific mutations in the two genes.
“There’s an urgent need for sharing data in cancer predisposition research,” Dr Chanock said.
“The BRCA Exchange is proof-of-principle that large-scale collaboration and data sharing can be achieved and can provide the latest and best quality information to enable clinicians and individuals to improve care.”
The BRCA Exchange is available at www.brcaexchange.org. A paper about its development has been published in the journal PLOS Genetics.