Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

doi:10.1038/s41431-024-01647-2

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

Community

Back to search

Article

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

European journal of human genetics : EJHG - 1 Aug 2024

Baumann Alexandra, Ruckert Christian, Meier Christoph, Hutschenreiter Tim, Remy Robert, Schnur Benedikt, Döbel Marvin, Fankep Rudel Christian Nkouamedjo, Skowronek Dariush, Kutz Oliver, Arnold Norbert, Katzke Anna-Lena, Forster Michael, Kobiela Anna-Lena, Thiedig Katharina, Zimmer Andreas, Ritter Julia, Weber Bernhard H F, Honisch Ellen, Hackmann Karl, Schmidt Gunnar, Sturm Marc, Ernst Corinna

Abstract excerpt

Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) with the inclusion of the BCAC 313 or the BRIDGES 306 BC PRS is commonly used. The PRS...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Breast Neoplasms

Share to Gene Frequency

Share to Genetic Risk Score

Share to Genetic Testing

Share to Genotyping Techniques

Share to High-Throughput Nucleotide Sequencing

Share to Multifactorial Inheritance

Source

Open in PubMed Open full text

Identifiers

PMID: 38907004
DOI: 10.1038/s41431-024-01647-2
PMCID: PMC11291653

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.PMID 38907004Read ↗

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score lociSemantic proximity Read ↗

Polygenic risk scores to refine Breast cancer screening and prevention strategies.Semantic proximity Read ↗

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.Semantic proximity Read ↗

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.Semantic proximity Read ↗

Assessing the risk stratification of breast cancer polygenic risk scores in two Brazilian samplesSemantic proximity Read ↗

Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer RiskSemantic proximity Read ↗

Genetic assessments of breast cancer risk that do not account for polygenic background are incomplete and lead to incorrect preventative strategiesSemantic proximity Read ↗

Polygenic Risk Scores for Breast Cancer: Modern Approaches to Risk Prediction and Subtype Identification.Semantic proximity Read ↗

Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.Semantic proximity Read ↗

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.Semantic proximity Read ↗

Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancerSemantic proximity Read ↗

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.Semantic proximity Read ↗

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