Collaborator: Mayo Clinic
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Functional and clinical characterization of BRCA2 hypomorphic missense variants
First Author: Huaizhi Huang (Mayo) Ambry Authors: Marcy Richardson,PhD; Rachid Karam,MD, PhD; Tina Pesaran
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Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2
First Author: Chunling Hu (Mayo) Ambry Authors: Rachid Karam, MD, PhD; Tina Pesaran, Marcy Richardson, PhD
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Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories
The identification and reporting of reduced risk BRCA1 and BRCA2 (RR-BRCA) variants is complex and poses challenges for patient counseling. We sought to compile and compare data for RR-BRCA variants reported by two clinical diagnostic laboratories.
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Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing
Abstract Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is limited, causing confusion among clinicians on which test to order. Using results from 147,994 multigene panel…
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort
Abstract Background The germline cancer predisposition genes associated with increased risk of each clinical subtype of breast cancer, defined by estrogen receptor (ER), progesterone receptor (PR), and HER2, are not well defined. Methods A total of 54 555 invasive breast cancer patients with 56 480 breast tumors were subjected to clinical hereditary cancer multigene panel testing.…