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

Session:
#121
Date:
Thursday, Apr 12, 2018 10:00am – 11:30am
Conference:
ACMG 2018
Authors:
Adam Chamberlin, Brigette Tippin Davis, Charles Yi, J. Parvin, Lucia Guidugli, Marcy Richardson, Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC, Vickie Hsuan
Collaborators:
  • 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.
Abstract Poster