Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer

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Data sharing and increased pools of data are promising for prevention and early diagnosis of breast cancer and ovarian cancer.
Data sharing and increased pools of data are promising for prevention and early diagnosis of breast cancer and ovarian cancer.

As the cost of multi-gene-testing declines and the number of known genetic mutations linked to breast and ovarian cancer increases, how are clinicians and patients to understand inherited risk, and how should risk reduction be approached?

Tuya Pal, MD, and colleagues at Moffitt Cancer Center in Tampa, Florida, are addressing these questions with ICARE, a registry-based research study launched in June 2010, which includes individuals at high risk for developing hereditary cancer. With a focus on BRCA mutations, ICARE has enrolled 1995 participants from 46 American states, the District of Columbia, and 10 countries worldwide, of which 1016 patients are BRCA carriers.

Recently, the BRCA Share Consortium, a novel public/private partnership created to promote BRCA data sharing, announced at the 6th Biennial Meeting of The Human Variome Project at UNESCO headquarters in Paris, France, that its database now contains more than 6200 BRCA variants, 1826 of which are pathogenic or likely pathogenic, and 334 of which were newly identified.1

Co-founded as an open user group in April 2015 by the French National Institute of Health and Medical Research (INSERM) and Quest Diagnostics, with the support of Inserm Transfer, the goal of BRCA Share is to accelerate research on BRCA gene mutations. As of May 23, 2016, the initiative had 1006 registered users from 428 institutions in 49 countries.

RELATED: BRCA1 Germline Mutation Associated With Reduced Ovarian Reserve

“BRCA Share is a unique model of partnership among academics and private companies that benefits both research and diagnosis,” Christophe Beroud, PharmD, PhD, assistant professor, laboratory of molecular genetics, INSERM, told Cancer Therapy Advisor in an email. “For the first time, data from the largest diagnostic companies and the French network of hospitals involved in BRCA testing are shared. In addition to this sharing, a strong curation process is in place to ensure that all data are validated by a group of experts, to ensure the highest quality.”

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