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Published on: August 24, 2013
PALB2 Genetic Variants: Can Functional Assays Assist Translation?
Melissa C Southey1, Amanda Rewse2, Tu Nguyen-Dumont3
1Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia; Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia.
Abstract:
PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.
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