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

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Nature communications - 22 May 2020

Ikegami Masachika, Kohsaka Shinji, Ueno Toshihide, Momozawa Yukihide, Inoue Satoshi, Tamura Kenji, Shimomura Akihiko, Hosoya Noriko, Kobayashi Hiroshi, Tanaka Sakae, Mano Hiroyuki

Abstract excerpt

Numerous nontruncating missense variants of the BRCA2 gene have been identified, but there is a lack of convincing evidence, such as familial data, demonstrating their clinical relevance and they thus remain unactionable. To assess the pathogenicity of variants of unknown significance (VUSs) within BRCA2, here we develop a method, the MANO-B method, for high-throughput functional evaluation utilizing...

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 BRCA2 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Survival

Share to High-Throughput Screening Assays

Share to Phthalazines

Share to Piperazines

Share to Poly(ADP-ribose) Polymerase Inhibitors

Share to Transduction, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 32444794
DOI: 10.1038/s41467-020-16141-8
PMCID: PMC7244490

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

High-throughput functional evaluation of BRCA2 variants of unknown significance.PMID 32444794Read ↗

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

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

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

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

Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer.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 ↗

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical AnnotationSemantic proximity Read ↗

Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.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 ↗

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

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