ArticleDatabase : the journal of biological databases and curation2020
HotSpotAnnotations-a database for hotspot mutations and annotations in cancer.
Article in Database : the journal of biological databases and curation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Genomic insights into uterine leiomyosarcoma: Unraveling KMT2D, CREBBP, NOTCH2, TSC2, ATM, and GNAS signatures.Clinics (Sao Paulo, Brazil) · 2026Article
- The Impact of Mutational Hotspots on Cancer Survival.Cancers · 2024Article
- Heterozygous Knockout ofGenes · 2023Article
- Article
- Actionability classification of variants of unknown significance correlates with functional effect.NPJ precision oncology · 2023Article
- Shared hotspot mutations in oncogenes position dogs as an unparalleled comparative model for precision therapeutics.Scientific reports · 2023Article
- HotSPOT: A Computational Tool to Design Targeted Sequencing Panels to Assess Early Photocarcinogenesis.Cancers · 2023Article
- APOBEC3: Friend or Foe in Human Papillomavirus Infection and Oncogenesis?Annual review of virology · 2022Review
- A mutational hotspot that determines highly repeatable evolution can be built and broken by silent genetic changes.Nature communications · 2021Article
- Review
- Mutational Characterization of Colorectal Cancer from Korean Patients with Targeted Sequencing.Journal of Cancer · 2021Article
- Modeling and analysis of site-specific mutations in cancer identifies known plus putative novel hotspots and bias due to contextual sequences.Computational and structural biotechnology journal · 2020Article
- Computational methods for detecting cancer hotspots.Computational and structural biotechnology journal · 2020Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hotspots, recurrently mutated DNA positions in cancer, are thought to be oncogenic drivers because random chance is unlikely and the knowledge of clear examples of oncogenic hotspots in genes like BRAF, IDH1, KRAS and NRAS among many other genes. Hotspots are attractive because provide opportunities for biomedical research and novel treatments. Nevertheless, recent evidence, such as DNA hairpins for APOBEC3A, suggests that a considerable fraction of hotspots seem to be passengers rather than drivers. To document hotspots, the database HotSpotsAnnotations is proposed. For this, a statistical model was implemented to detect putative hotspots, which was applied to TCGA cancer datasets covering 33 cancer types, 10 182 patients and 3 175 929 mutations. Then, genes and hotspots were annotated by two published methods (APOBEC3A hairpins and dN/dS ratio) that may inform and warn researchers about possible false functional hotspots. Moreover, manual annotation from users can be added and shared. From the 23 198 detected as possible hotspots, 4435 were selected after false discovery rate correction and minimum mutation count. From these, 305 were annotated as likely for APOBEC3A whereas 442 were annotated as unlikely. To date, this is the first database dedicated to annotating hotspots for possible false functional hotspots.
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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.