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

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.

Human mutation - 1 Apr 2016

Moghadasi Setareh, Eccles Diana M, Devilee Peter, Vreeswijk Maaike P G, van Asperen Christi J

Abstract excerpt

In 2008, the International Agency for Research on Cancer (IARC) proposed a system for classifying sequence variants in highly penetrant breast and colon cancer susceptibility genes, linked to clinical actions. This system uses a multifactorial likelihood model to calculate the posterior probability that an altered DNA sequence is pathogenic. Variants between 5%-94.9% (class 3) are categorized as variants of...

Read the complete abstract on PubMed

Topics

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

Share to Disease Management
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Models, Statistical

Share to Neoplasms

Share to Penetrance

Share to Practice Guidelines as Topic

Share to Uncertainty

Source

Identifiers

PMID: 26777316
DOI: 10.1002/humu.22956

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

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.PMID 26777316Read ↗

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

Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?Semantic proximity Read ↗

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)Semantic proximity Read ↗

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.Semantic proximity Read ↗

Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.Semantic proximity Read ↗

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.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 multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes.Semantic proximity Read ↗

Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.Semantic proximity Read ↗

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?Semantic proximity Read ↗

Changes in classification of genetic variants in BRCA1 and BRCA2.Semantic proximity Read ↗

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