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Start Over Author "Adam Buch" Topic qh426-470
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9. Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

Author

Kelly M. Schiabor Barrett, Max Masnick, Kathryn E. Hatchell, Juliann M. Savatt, Natalie Banet, Adam Buchanan, and Huntington F. Willard

Subjects
BRCA1, hereditary breast and ovarian cancer, functional screen, electronic health record, population genomics, rare variant interpretation, Genetics, QH426-470
Abstract

Summary: Functional assessment of genomic variants provides a promising approach to systematically examine the potential pathogenicity of variants independent of associated clinical data. However, making such conclusions requires validation with appropriate clinical findings. To this end, here, we use variant calls from exome data and BRCA1-related cancer diagnoses from electronic health records to demonstrate an association between published laboratory-based functional designations of BRCA1 variants and BRCA1-related cancer diagnoses in an unselected cohort of patient-participants. These findings validate and support further exploration of functional assay data to better understand the pathogenicity of rare variants. This information may be valuable in the context of healthy population genomic screening, where many rare, potentially pathogenic variants may not have sufficient associated clinical data to inform their interpretation directly.

Published
2022
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