Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

American journal of human genetics - 4 Mar 2021

Richardson Marcy E, Hu Chunling, Lee Kun Y, LaDuca Holly, Fulk Kelly, Durda Kate M, Deckman Ashley M, Goldgar David E, Monteiro Alvaro N A, Gnanaolivu Rohan, Hart Steven N, Polley Eric C, Chao Elizabeth, Pesaran Tina, Couch Fergus J

Abstract excerpt

Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited availability of data for use in classification models. However, laboratory-based functional data derived from validated functional assays of known sensitivity and specificity may influence the interpretation of VUSs. We evaluated 252...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA2 Protein
Share to Breast Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Mutation, Missense

Share to Recombinational DNA Repair

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 33609447
DOI: 10.1016/j.ajhg.2021.02.005
PMCID: PMC8008494

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.PMID 33609447Read ↗

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.Semantic proximity Read ↗

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.Semantic proximity Read ↗

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.Semantic proximity Read ↗

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.Semantic proximity Read ↗

High-Throughput Functional Evaluation of <i>BRCA2</i> Variants of Unknown SignificanceSemantic proximity Read ↗

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

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction modelsSemantic proximity Read ↗

Functional assays for analysis of variants of uncertain significance in BRCA2.Semantic proximity Read ↗

High-throughput functional evaluation of BRCA2 variants of unknown significance.Semantic proximity Read ↗

A guide for functional analysis of BRCA1 variants of uncertain significance.Semantic proximity Read ↗

Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.Semantic proximity Read ↗

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.