ReviewInternational journal of breast cancer2016
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
Review in International journal of breast cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 75 citations in OpenAlex.
- Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial.JCO oncology practice · 2023Trial
- Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.JAMA network open · 2025Observational
- Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.Cancer research communications · 2024Article
- BRCA1/2 reversion mutations in a pan-cancer cohort.Cancer science · 2024Article
- Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.JAMA oncology · 2024Article
- Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.Breast cancer research and treatment · 2023Article
- Clinical predominance of whole-exome sequencing to evaluate microsatellite instability status.Cancer science · 2023Article
- Simplified and more sensitive criteria for identifying individuals with pathogenicJournal of medical genetics · 2023Article
- Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.Genome biology · 2022Article
- Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.JAMA oncology · 2022Article
- How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?BMC medical genomics · 2022Article
- Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.JCO precision oncology · 2022Article
- Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.The Journal of clinical endocrinology and metabolism · 2022Article
- Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.Cancer medicine · 2022Article
- Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.JNCI cancer spectrum · 2022Article
- Genetic landscape of pancreatic adenocarcinoma patients: a pilot study from Pakistan.Molecular biology reports · 2022Article
- Classification of the canonical splice alterationCold Spring Harbor molecular case studies · 2022Article
- Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.American journal of human genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. The accuracy of an assay is reliant on not only the technology and bioinformatics analysis utilized but also the experience and infrastructure required to correctly classify genetic variants as disease-causing. Interpreting the clinical significance of germline variants identified by hereditary cancer testing is complex and has a significant impact on the management of patients who are at increased cancer risk. In this review we give an overview of our clinical laboratory's integrated approach to variant assessment. We discuss some of the nuances that should be considered in the assessment of genomic variants. In addition, we highlight lines of evidence such as functional assays and structural analysis that can be useful in the assessment of rare and complex variants.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.