Multigene panel testing for @entity4310 risk has recently become commercially available; however, the impact of its use on @entity1 care is undefined. We sought to evaluate results from implementation of panel testing in a multidisciplinary @entity5 center. We performed a retrospective review of consecutive @entity1 undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 @entity1 were referred for genetic testing based on National @entity5 Network guidelines. Testing was completed in 90 @entity1 . Overall, nine (10%) pathogenic mutations were identified: five @entity6069 , and four in non-BRCA loci. Single-site testing identified one @entity5345 and one @entity2674 mutation. The remaining mutations were identified by use of panel testing for @entity5344 . There were 40 variants of uncertain significance identified in 34 @entity1 . The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone. The large number of variants of uncertain significance identified will require long-term follow-up for potential reclassification. Multigene panel testing provides additional information that may improve @entity1 outcomes.

Initial Results of Multigene Panel Testing for XXXX and Lynch Syndrome.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['hereditary breast and ovarian cancer'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancer', 'Comprehensive Cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity6069 :: ('672;675', 'Gene') :: ['BRCA1/2'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['hereditary cancer']
@entity5344 :: (MESH:D061325,Disease) :: ['Hereditary Breast and Ovarian Cancer']
