Discover Community Create You

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

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Jun 2011

Iversen Edwin S, Couch Fergus J, Goldgar David E, Tavtigian Sean V, Monteiro Alvaro N A

Abstract excerpt

BACKGROUND: Besides revealing cancer predisposition variants or the absence of any changes, genetic testing for cancer predisposition genes can also identify variants of uncertain clinical significance (VUS). Classifying VUSs is a pressing problem, as ever more patients seek genetic testing for disease syndromes and receive noninformative results from those tests. In cases such as the breast and ovarian cancer...

Read the complete abstract on PubMed

Topics

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

Share to Bayes Theorem
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Breast Neoplasms

Share to Computational Biology

Share to IMPACT gene

Share to Genetic Predisposition to Disease

Share to Likelihood Functions

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 21447777
DOI: 10.1158/1055-9965.EPI-10-1214
PMCID: PMC3111818

Genes

BRCA1
IMPACT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.PMID 21447777Read ↗

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

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

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Semantic proximity Read ↗

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

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Semantic proximity Read ↗

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.Semantic proximity Read ↗

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

A high-throughput functional complementation assay for classification of BRCA1 missense variants.Semantic proximity Read ↗

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.Semantic proximity Read ↗

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

Functional impact of missense variants in BRCA1 predicted by supervised learning.Semantic proximity Read ↗

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