The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Mutations in BRCA1 confer high life-time risks for breast cancer (BC): 68% and ovarian cancer (OC): 39%. Our paper describes the cancer risks associated with the missense mutation BRCA1*R1699Q in a large group of families ascertained internationally. Results show that the risks associated with this mutation, BC 20%  and OC 6%, are lower than for the average BRCA1 mutations. Based on these risks we proposed mutation-specific recommendations for clinical management. We also found that, as occurs with moderate risk genes, cancer risks in families with this intermediate risk mutation are likely to be influenced by additional genetic factors. (By Mrs. Setareh Moghadasi and Dr. E. Gomez Garcia, http://jmg.bmj.com/content/early/2017/05/10/jmedgenet-2017-104560 )