ArticleGenome research2012
Whole genome sequencing of matched primary and metastatic acral melanomas.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 1 of them a synthesis that pooled it.
What it found
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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
94 citing papers in PubMed, 1 synthesis or guideline pooled it, 167 citations in OpenAlex.
- A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.Molecular cancer therapeutics · 2014Pooled it
- Nilotinib in KIT-driven advanced melanoma: Results from the phase II single-arm NICAM trial.Cell reports. Medicine · 2024Trial
- Tumor infiltrating lymphocytes in acral lentiginous melanoma: a study of a large cohort of cases from Latin America.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017Trial
- Article
- Ancestry and somatic profile predict acral melanoma origin and prognosis.medRxiv : the preprint server for health sciences · 2025Article
- Crosstalk in Skin: Loss of Desmoglein 1 in Keratinocytes Inhibits BRAFThe Journal of investigative dermatology · 2025Article
- Surgical resection margin for T3-T4 primary acral melanoma: a multicenter retrospective cohort study.Archives of dermatological research · 2023Article
- Differences in the Clinical and Molecular Profiles of Subungual Melanoma and Acral Melanoma in Asian Patients.Cancers · 2023Article
- Colorectal cancer liver metastasis: genomic evolution and crosstalk with the liver microenvironment.Cancer metastasis reviews · 2023Review
- Identifying the Transcriptional Drivers of Metastasis Embedded within Localized Melanoma.Cancer discovery · 2023Article
- Modeling Preclinical Cancer Studies under Physioxia to Enhance Clinical Translation.Cancer research · 2022Review
- Melanoma: Molecular genetics, metastasis, targeted therapies, immunotherapies, and therapeutic resistance.Genes & diseases · 2022Review
- Article
- Nanoparticle-Based Combination Therapy for Melanoma.Frontiers in oncology · 2022Review
- Gradient differences of immunotherapy efficacy in metastatic melanoma related to sunlight exposure pattern: A population-based study.Frontiers in oncology · 2022Article
- The Genetic Evolution of Treatment-Resistant Cutaneous, Acral, and Uveal Melanomas.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Emerging strategies to treat rare and intractable subtypes of melanoma.Pigment cell & melanoma research · 2021Review
- Positive Association Between Location of Melanoma, Ultraviolet Signature, Tumor Mutational Burden, and Response to Anti-PD-1 Therapy.JCO precision oncology · 2021Article
- Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.Nature communications · 2020Article
- Multi-site clonality analysis uncovers pervasive heterogeneity across melanoma metastases.Nature communications · 2020Observational
34 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
16 authors at 3 institutions in 2 countries.
Funding
Abstract
Next generation sequencing has enabled systematic discovery of mutational spectra in cancer samples. Here, we used whole genome sequencing to characterize somatic mutations and structural variation in a primary acral melanoma and its lymph node metastasis. Our data show that the somatic mutational rates in this acral melanoma sample pair were more comparable to the rates reported in cancer genomes not associated with mutagenic exposure than in the genome of a melanoma cell line or the transcriptome of melanoma short-term cultures. Despite the perception that acral skin is sun-protected, the dominant mutational signature in these samples is compatible with damage due to ultraviolet light exposure. A nonsense mutation in ERCC5 discovered in both the primary and metastatic tumors could also have contributed to the mutational signature through accumulation of unrepaired dipyrimidine lesions. However, evidence of transcription-coupled repair was suggested by the lower mutational rate in the transcribed regions and expressed genes. The primary and the metastasis are highly similar at the level of global gene copy number alterations, loss of heterozygosity and single nucleotide variation (SNV). Furthermore, the majority of the SNVs in the primary tumor were propagated in the metastasis and one nonsynonymous coding SNV and one splice site mutation appeared to arise de novo in the metastatic lesion.
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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.