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Is a mastectomy the right option for all women with changes in the #BRCA genes? No – yet women who carry a BRCA variant of “uncertain” significance are unnecessarily having preventive mastectomies. Their variant could be benign, but they don’t want to take the chance it’s not. Professor Amanda Spurdle explains how a remarkable world-first data-sharing trial is helping remove the uncertainty for patients by working out which variants are harmful and which are harmless.
By QIMR BerghoferIs a mastectomy the right option for all women with changes in the #BRCA genes? No – yet women who carry a BRCA variant of “uncertain” significance are unnecessarily having preventive mastectomies. Their variant could be benign, but they don’t want to take the chance it’s not. Professor Amanda Spurdle explains how a remarkable world-first data-sharing trial is helping remove the uncertainty for patients by working out which variants are harmful and which are harmless.

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