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

[Variant interpretation in molecular pathology and oncology : An introduction].

Der Pathologe - 1 Jul 2021

Horak Peter, Leichsenring Jonas, Kreutzfeldt Simon, Kazdal Daniel, Teleanu Veronica, Endris Volker, Volckmar Anna-Lena, Renner Marcus, Kirchner Martina, Heilig Christoph E, Neumann Olaf, Schirmacher Peter, Fröhling Stefan, Stenzinger Albrecht

Abstract excerpt

Increasingly extensive genomic diagnostics in cancer precision medicine require uniform evaluation criteria for the classification of variants with regard to their functional and therapeutic implications. In this review we present the most important guidelines and classification systems currently used in daily clinical practice, explain their advantages and disadvantages as well as differences and similarities,...

Read the complete abstract on PubMed

Topics

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

Share to Genomics
Share to Medical Oncology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neoplasms

Share to Pathology, Molecular

Share to Precision Medicine

Source

Identifiers

PMID: 33938987
DOI: 10.1007/s00292-021-00938-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Variant interpretation in molecular pathology and oncology : An introduction].PMID 33938987Read ↗

Resources for Interpreting Variants in Precision Genomic Oncology ApplicationsSemantic proximity Read ↗

The current state of clinical interpretation of sequence variants.Semantic proximity Read ↗

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read ↗

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Semantic proximity Read ↗

Challenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersSemantic proximity Read ↗

Understanding variants of unknown significance and classification of genomic alterations.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read ↗

Findings from Precision Oncology in the Clinic: Rare, Novel Variants are a Significant Contributor to Scaling Molecular DiagnosticsSemantic proximity Read ↗

Clinical Interpretation of Genomic Variations.Semantic proximity Read ↗

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