ArticleGenetics2006
Statistical analysis of pathogenicity of somatic mutations in cancer.
Article in Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 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
95 citing papers in PubMed, 175 citations in OpenAlex.
- Leveraging tumor dynamics to discover mutations influencing progression and treatment response for precision oncology.Genome medicine · 2026Article
- Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.Nature communications · 2024Article
- Article
- Mitochondrial DNA mosaicism in normal human somatic cells.Nature genetics · 2024Article
- The molecular map of CLL and Richter's syndrome.Seminars in hematology · 2024Review
- Article
- Spatial biology of cancer evolution.Nature reviews. Genetics · 2023Review
- Article
- Article
- Utilizing patient information to identify subtype heterogeneity of cancer driver genes.Statistical methods in medical research · 2022Article
- Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.Nature communications · 2022Observational
- Article
- Recurrent high-impact mutations at cognate structural positions in class A G protein-coupled receptors expressed in tumors.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Mutational spectrum of SARS-CoV-2 during the global pandemic.Experimental & molecular medicine · 2021Article
- Demographic History, Adaptation, and NRAP Convergent Evolution at Amino Acid Residue 100 in the World Northernmost Cattle from Siberia.Molecular biology and evolution · 2021Article
- Article
- Review
- Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- DriveWays: a method for identifying possibly overlapping driver pathways in cancer.Scientific reports · 2020Article
- Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology.Nature communications · 2020Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Recent large-scale sequencing studies have revealed that cancer genomes contain variable numbers of somatic point mutations distributed across many genes. These somatic mutations most likely include passenger mutations that are not cancer causing and pathogenic driver mutations in cancer genes. Establishing a significant presence of driver mutations in such data sets is of biological interest. Whereas current techniques from phylogeny are applicable to large data sets composed of singly mutated samples, recently exemplified with a p53 mutation database, methods for smaller data sets containing individual samples with multiple mutations need to be developed. By constructing distinct models of both the mutation process and selection pressure upon the cancer samples, exact statistical tests to examine this problem are devised. Tests to examine the significance of selection toward missense, nonsense, and splice site mutations are derived, along with tests assessing variation in selection between functional domains. Maximum-likelihood methods facilitate parameter estimation, including levels of selection pressure and minimum numbers of pathogenic mutations. These methods are illustrated with 25 breast cancers screened across the coding sequences of 518 kinase genes, revealing 90 base substitutions in 71 genes. Significant selection pressure upon truncating mutations was established. Furthermore, an estimated minimum of 29.8 mutations were pathogenic.
Indexed as
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.