ArticleNature cancer2020
Multi-omic analysis reveals significantly mutated genes and DDX3X as a sex-specific tumor suppressor in cutaneous melanoma.
Article in Nature cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.Genome medicine · 2022Pooled it
- Loss of tumor-infiltrating lymphocytes and poor response to immunotherapy in IDH GOF mutant melanoma.JCI insight · 2026Article
- The SWI/SNF complex in tumor metabolism: Mechanisms and therapeutic implications.The Journal of biological chemistry · 2026Review
- Tumor antigens preferentially derive from unmutated genomic sequences in melanoma and non-small cell lung cancer.Nature cancer · 2025Article
- Combination adjuvant improves influenza virus immunity by downregulation of immune homeostasis genes in lymphocytes.ImmunoHorizons · 2025Article
- X-inactive-specific transcript: a long noncoding RNA with a complex role in sex differences in human disease.Biology of sex differences · 2024Review
- Mapping the single cell spatial immune landscapes of the melanoma microenvironment.Clinical & experimental metastasis · 2024Review
- Review
- Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.Nature communications · 2023Article
- Lipid droplets are a metabolic vulnerability in melanoma.Nature communications · 2023Article
- The journey from melanocytes to melanoma.Nature reviews. Cancer · 2023Review
- Comparison of the Basal Cell Carcinoma (BCC) Tumour Microenvironment to Other Solid Malignancies.Cancers · 2023Article
- Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.Cancer discovery · 2022Article
- DEAD-Box RNA Helicases DDX3X and DDX5 as Oncogenes or Oncosuppressors: A Network Perspective.Cancers · 2022Review
- Stepwise-edited, human melanoma models reveal mutations' effect on tumor and microenvironment.Science (New York, N.Y.) · 2022Article
- Altered BAF occupancy and transcription factor dynamics in PBAF-deficient melanoma.Cell reports · 2022Article
- Revisiting miRNA Association with Melanoma Recurrence and Metastasis from a Machine Learning Point of View.International journal of molecular sciences · 2022Review
- The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.BMC cancer · 2022Article
- The landscape of driver mutations in cutaneous squamous cell carcinoma.NPJ genomic medicine · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
The high background tumor mutation burden in cutaneous melanoma limits the ability to identify significantly mutated genes (SMGs) that drive this cancer. To address this, we performed a mutation significance study of over 1,000 melanoma exomes, combined with a multi-omic analysis of 470 cases from The Cancer Genome Atlas. We discovered several SMGs with co-occurring loss-of-heterozygosity and loss-of-function mutations, including PBRM1, PLXNC1 and PRKAR1A, which encodes a protein kinase A holoenzyme subunit. Deconvolution of bulk tumor transcriptomes into cancer, immune and stromal components revealed a melanoma-intrinsic oxidative phosphorylation signature associated with protein kinase A pathway alterations. We also identified SMGs on the X chromosome, including the RNA helicase DDX3X, whose loss-of-function mutations were exclusively observed in males. Finally, we found that tumor mutation burden and immune infiltration contain complementary information on survival of patients with melanoma. In summary, our multi-omic analysis provides insights into melanoma etiology and supports contribution of specific mutations to the sex bias observed in this cancer.
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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.