ArticleCancers2010
The Clinical Significance of Unknown Sequence Variants in BRCA Genes.
Article in Cancers, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 33 citations in OpenAlex.
- Genomic profiling of Mexican patients with B-cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants.The journal of pathology. Clinical research · 2026Article
- Reclassification of a BRCA2 variant, c.8487G > A (p.Gln2829Gln) located at 3' end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report.Japanese journal of clinical oncology · 2026Article
- Reclassification ofBiomolecules & biomedicine · 2026Article
- Review
- Article
- Screening Programs for Breast Cancer: Toward Individualized, Risk-Adapted Strategies of Early Detection.Cancer treatment and research · 2023Article
- Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.Scientific reports · 2021Article
- Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.Scientific reports · 2021Article
- Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.PloS one · 2020Article
- Prevalence and oncologic outcomes ofObstetrics & gynecology science · 2019Article
- Clinical significance of variants of unknown significances inJournal of gynecologic oncology · 2019Article
- The influence of BRCA variants of unknown significance on cancer risk management decision-making.Journal of gynecologic oncology · 2019Article
- BRCA1-No Matter How You Splice It.Cancer research · 2019Review
- Review
- Clinically Significant Unclassified Variants inCancer research and treatment · 2017Article
- Comparison of Clinical Outcomes ofCancer research and treatment · 2017Article
- Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.BMC cancer · 2017Article
- Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.Familial cancer · 2016Article
- The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.Current pharmacogenomics and personalized medicine · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with splicing effect. The discovery of variants of uncertain/unclassified significance (VUS) is a result that can complicate rather than improve the risk assessment process. VUSs are mainly missense mutations, but also include a number of intronic variants and in-frame deletions and insertions. Over 2,000 unique BRCA1 and BRCA2 missense variants have been identified, located throughout the whole gene (Breast Cancer Information Core Database (BIC database)). Up to 10-20% of the BRCA tests report the identification of a variant of uncertain significance. There are many methods to discriminate deleterious/high-risk from neutral/low-risk unclassified variants (i.e., analysis of the cosegregation in families of the VUS, measure of the influence of the VUSs on the wild-type protein activity, comparison of sequence conservation across multiple species), but only an integrated analysis of these methods can contribute to a real interpretation of the functional and clinical role of the discussed variants. The aim of our manuscript is to review the studies on BRCA VUS in order to clarify their clinical relevance.
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.