ArticlePLoS genetics2016
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 17 citations in OpenAlex.
- Interventions for Population Genetic Screening in Ethnic and Racial Minorities: A Scoping Review.Journal of racial and ethnic health disparities · 2025Article
- Revealing tumor microenvironment communication through m6A single-cell analysis and elucidating immunotherapeutic potentials for cutaneous melanoma (CM).Journal of cancer research and clinical oncology · 2025Article
- Characterization of the BH1406 non-small cell lung cancer (NSCLC) cell line carrying an activating SOS1 mutation.Translational lung cancer research · 2024Article
- TP-0184 inhibits FLT3/ACVR1 to overcome FLT3 inhibitor resistance and hinder AML growth synergistically with venetoclax.Leukemia · 2024Article
- Antimelanoma Effects of Concomitant Inhibition of SIRT1 and SIRT3 in BrafThe Journal of investigative dermatology · 2022Article
- Genomic and experimental evidence that ALKiScience · 2021Article
- Tumour Initiation: a Discussion on Evidence for a "Load-Trigger" Mechanism.Cell biochemistry and biophysics · 2019Review
- ACVR1 Function in Health and Disease.Cells · 2019Review
- Fostering open collaboration in drug development for paediatric brain tumours.Biochemical Society transactions · 2019Review
- Unique dependence on Sos1 inBlood · 2018Article
- Metastatic adrenocortical carcinoma displays higher mutation rate and tumor heterogeneity than primary tumors.Nature communications · 2018Article
- RUNX1 positively regulates the ErbB2/HER2 signaling pathway through modulating SOS1 expression in gastric cancer cells.Scientific reports · 2018Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identification of biologically significant variants in cancer genomes is critical to therapeutic discovery, but it is limited by the statistical power needed to discern driver from passenger. Independent biological data can be used to filter cancer exomes and increase statistical power. Large genetic databases for inherited diseases are uniquely suited to this task because they contain specific amino acid alterations with known pathogenicity and molecular mechanisms. However, no rigorous method to overlay this information onto the cancer exome exists. Here, we present a computational methodology that overlays any variant database onto the somatic mutations in all cancer exomes. We validate the computation experimentally and identify novel associations in a re-analysis of 7362 cancer exomes. This analysis identified activating SOS1 mutations associated with Noonan syndrome as significantly altered in melanoma and the first kinase-activating mutations in ACVR1 associated with adult tumors. Beyond a filter, significant variants found in both rare cancers and rare inherited diseases increase the unmet medical need for therapeutics that target these variants and may bootstrap drug discovery efforts in orphan indications.
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.