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Article

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Hart Steven N, Hoskin Tanya, Shimelis Hermela, Moore Raymond M, Feng Bingjian, Thomas Abigail, Lindor Noralane M, Polley Eric C, Goldgar David E, Iversen Edwin, Monteiro Alvaro N A, Suman Vera J, Couch Fergus J

Abstract excerpt

PURPOSE: To improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function. METHODS: Functional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high sensitivity and specificity for damaging variants were used to recalibrate 40 in silico algorithms predicting the impact of variants on protein activity. Additional random...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29884841
DOI: 10.1038/s41436-018-0018-4
PMCID: PMC6287763

Genes

BRCA1
BRCA2

Provenance

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