Research

Session # 121

 Integrating Functional and Structural Analyses Improves the Assessment of BRCA1 Missense Variants of Unknown Significance

  • The correct classification of BRCA1 missense variants presents a challenge to provide accurate genetic counseling and targeted cancer therapy.
  • To improve the classification of these alterations, we propose an integrated approach: clinical data, protein structure, in silico analyses, and population allele frequency followed by HDR assay and quantitative infrared western blot analyses.
  • This approach may also be used to assess additional missense VUS in other Hereditary Breast and Ovarian Cancer genes involved in the HDR pathway.

  • Authors: Charles Yi; Marcy Richardson; Tina Pesaran; Vickie Hsuan; Adam Chamberlin; Lucia Guidugli; J. Parvin; Brigette Tippin Davis; Rachid Karam
  • Collaborators: Ohio State University
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Thursday, Apr 12, 2018 10:00am - 11:30am

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