ArticleGynecologic oncology2019
Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression.
Article in Gynecologic oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06680791 (Molecular Classification in Relation to Prevention of Endometrial Cancer Recurrence and Lifestyle Factors), which is not on this map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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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.
Molecular Classification in Relation to Prevention of Endometrial Cancer Recurrence and Lifestyle Factors
Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma.Pathology oncology research : POR · 2020Pooled it
- A Phase II Trial of Olaparib plus Pembrolizumab in Patients with Recurrent Copy Number-High/p53-Abnormal Endometrial Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
- Nivolumab for mismatch-repair-deficient or hypermutated gynecologic cancers: a phase 2 trial with biomarker analyses.Nature medicine · 2024Trial
- Interpreting homologous recombination deficiency in rare gynecological cancers: A case of primary mucinous endometrial adenocarcinoma of gastrointestinal type.Gynecologic oncology reports · 2026Article
- Genomic and Transcriptomic Analysis of High-Grade Endometrial Carcinoma Reveals Biological Heterogeneity and Molecular Classification Challenges.Cancer research communications · 2026Article
- Inferring cancer type-specific patterns of metastatic spread using Metient.Nature methods · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- Evolutionary dynamics of early and late mutational signatures in metastatic cancer.Frontiers in bioinformatics · 2026Article
- CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.NPJ precision oncology · 2025Article
- Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Whole-genome sequencing-based characterization of endometrial serous carcinoma.Gynecologic oncology · 2025Article
- Antitumor activity of rucaparib plus PLX038A in serous endometrial carcinoma.Journal of experimental & clinical cancer research : CR · 2025Article
- Molecular and microenvironmental landscapes of human papillomavirus-independent invasive squamous cell carcinoma of the vulva.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2025Article
- Review
- Genomics of uterine malignancies and the potential of precision medicine.Therapeutic advances in medical oncology · 2025Review
- Identification of key pathways and molecular players potentially involved in endometrial cancer metastasis through integrated bioinformatics analyses.BioImpacts : BI · 2025Article
- Comprehensive molecular characterization of early stage grade 3 endometrioid endometrial adenocarcinoma.Gynecologic oncology · 2024Article
- Article
- Targeted and Shallow Whole-Genome Sequencing Identifies Therapeutic Opportunities in p53abn Endometrial Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Endometrial cancer at recurrence: To re-sequence or not to re-sequence.Gynecologic oncology reports · 2024Article
3 more citing papers are in PubMed but not listed here.
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8 authors at 1 institution in 1 country.
Funding
Abstract
objectiveMutational signatures provide insights into the biological processes shaping tumor genomes and may inform patient therapy. We sought to define the mutational signatures of i) endometrioid and serous endometrial carcinomas (ECs), stratified into the four molecular subtypes, ii) uterine carcinosarcomas, and iii) matched primary and metastatic ECs.
methodsWhole-exome sequencing MC3 data from primary endometrioid and serous carcinomas (n = 232) and uterine carcinosarcomas (n = 57) from The Cancer Genome Atlas (TCGA), and matched primary and metastatic ECs (n = 61, 26 patients) were reanalyzed, subjected to mutational signature analysis using deconstructSigs, and correlated with clinicopathologic and genomic data.
resultsPOLE (ultramutated) and MSI (hypermutated) molecular subtypes displayed dominant mutational signatures associated with POLE mutations (15/17 cases) and microsatellite instability (55/65 cases), respectively. Most endometrioid and serous carcinomas of copy-number low (endometrioid) and copy-number high (serous-like) molecular subtypes, and carcinosarcomas displayed a dominant aging-associated signature 1. Only 15% (9/60) of copy-number high (serous-like) ECs had a dominant signature 3 (homologous recombination DNA repair deficiency (HRD)-related), a prevalence significantly lower than that found in high-grade serous ovarian carcinomas (54%, p < 0.001) or basal-like breast cancers (46%, p < 0.001). Shifts from aging- or POLE- to MSI-related mutational processes were observed in the progression from primary to metastatic ECs in a subset of cases.
conclusionsThe mutational processes underpinning ECs vary even among tumors of the same TCGA molecular subtype and in the progression from primary to metastatic ECs. Only a minority of copy-number high (serous-like) ECs display genomics features of HRD and would likely benefit from HRD-directed therapies.
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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.