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McGill University helps understand the risk of cancer: Med e-News


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The BRCA1 and BRCA2 variants include thousands of data

Source: McGill Newsroom

McGill University has developed a global resource. It includes thousands of inherited variants BRCA1 and BRCA2 genes BRCA Exchange was created through BRCA Challenge through a long-term project for the Global Alliance for Genomics and Health (GA4GH) initiative. BRCA1 / BRCA2 data A resource through a web page and through a new smartphone application allows clinicians to review variants of large predispositions of cancer to review expert ratings, in the personal assessment of complex questions related to the prevention, operation and risk assessment of patients with high risk patients. .

BRCA Exchange's development details have been published today PLOS Genetics.

The Genomics and Policy Center at McGill University has provided the ethic and legal guidance of the BRCA Exchange to maximize the availability and quality of genetic variations of data to provide patient care. CGP researchers Bartha Knoppers and Adrian Thorogood identified the strategies for minimizing the responsibility of databases and their users ("Public Data Base Responsibility?"). They also integrate software for the interpretation of genetic databases in the regulation of medical devices ("Database genetic data as a medical device"). The CGP team continues analyzing strategies for sharing data from the genetic and clinical genetic data of BRCA Exchange to help precision medicine, minimizing the risks of patient privacy.

"To understand how BRCA Exchange affects the risk of breast cancer and breast cancer," Adrian Thorogood adds. "Open data and international cooperation all over the world have the right to enjoy science progress".

The five-year BRCA Challenge project was funded by the National Cancer Institute (NCI) in the National Institutes of Health. Cancer Moonshot.

"This project has done meta – analysis BRCA1 and BRCA2 the variants contained in multiple sources, to understand how both genes have agreed to the specific mutations, "said Stephen J. Chanock, MD, Director of NCI's Department of Cancer Epidemiology and Genetics, and a leading author of paper." The need to share data on cancer predisposition research is essential. The BRCA Exchange principle is evidence of high-level collaboration and data exchange that can allow physicians and individuals to improve their care of the latest and best information. "

Various variants of variants BRCA1 and BRCA2 They may increase the risk of breast, ovarian and other cancers, while other strains are not associated with the disease. Clinicians and patients should know that a certain variant is a disease (pathogens) and it is likely that a pathogenic variable causes cancer (penetration). Until now, the available data of inherited variants of these genes were not aggregated in the aggregate.

The BRCA Exchange database is part of the clinical database (Breast Cancer Information Kernel, ClinVar and Leiden Open Variation Database) and database data and data clinic, clinical laboratories and data from the researchers. Nowadays it is made up of more than 20,000 BRCA1 and BRCA2 variant In the database, more than 6,100 variants have been classified as an expert panel, the Germline Mutant Alelo Interpretation Evidence-Based Network (ENIGMA), and about 3,700 of these variants are known to influence the disease. BRCA Exchange pools are a variation of data resources around the world to add rare variants that are occasionally noticeable.

Single Point Access Website (, BRCA Exchange provides information on these gene variants for doctors, researchers, data scientists, patients, and patient advocates. It is also a demonstration project, that is to share comprehensive data that require collaboration between hundreds of organizations, the creation of information collection infrastructures and the development of data exchange protocols, for other genetic predispositions of other cancers, and other genes related to other diseases.

The next step in the project has been the development of collaboration with global data generators and sustainable data, continued technical development and patient-patient advocacy worldwide.

Video 1: BRCA Exchange: data for the benefit of science and medicine

Video 2: BRCA Exchange overview

January 9, 2019

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