Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel

Given the recent expansion of our clinical genetic testing program in Ontario beyond just BRCA1/2, to a panel of 20 genes, it is relevant to ask whether individuals who were tested for BRCA1/2 alone in the past, but were found to be negative, should be re-tested with the new panel today.  In the last two years, we re-tested 110 BRCA1/2-negative individuals using the 20-gene panel. Six patients were found to carry a pathogenic variant in a gene other than BRCA1/2 (5.5%). These findings support the current practice in Ontario of re-testing BRCA1/2-negative patients at the discretion of the treating physician. (By Dr Jordan Lerner-Ellis, https://jmg.bmj.com/content/early/2019/11/29/jmedgenet-2019-106403 )

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