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

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Molecular genetics & genomic medicine - 1 May 2023

Manotas María Carolina, Rivera Ana Lucia, Sanabria-Salas María Carolina

Abstract excerpt

BACKGROUND: Variant curation refers to the application of evidence-based methods for the interpretation of genetic variants. Significant variability in this process among laboratories affects clinical practice. For admixed Hispanic/Latino populations, underrepresented in genomic databases, the interpretation of genetic variants for cancer risk is challenging. METHODS: We retrospectively evaluated 601 sequence...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Latin America

Share to Neoplastic Syndromes, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 36905130
DOI: 10.1002/mgg3.2141
PMCID: PMC10178801

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

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.PMID 36905130Read ↗

Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year PeriodSemantic proximity Read ↗

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.Semantic proximity Read ↗

Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation MethodsSemantic proximity Read ↗

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.Semantic proximity Read ↗

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.Semantic proximity Read ↗

The impact of variant classification on the clinical management of hereditary cancer syndromes.Semantic proximity Read ↗

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.Semantic proximity Read ↗

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.Semantic proximity Read ↗

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.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 ↗

Clinical Cancer Genetics Disparities among Latinos.Semantic proximity Read ↗

Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genesSemantic proximity Read ↗

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