ArticleJNCI cancer spectrum2018
Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.
Article in JNCI cancer spectrum, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Protein Phosphorylation Alterations in Myotonic Dystrophy Type 1: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Spectrum of Cancers and Their Prognosis Among Patients With Myotonic Dystrophy.JAMA network open · 2025Article
- Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink.Muscle & nerve · 2025Article
- Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1.Computational and structural biotechnology journal · 2024Article
- Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.Neurology · 2024Article
- An Autopsy Case of Myotonic Dystrophy Type 1 With Pancreatic Intraductal Papillary Mucinous Neoplasm.Cureus · 2024Article
- Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network.Journal of cardiovascular development and disease · 2024Review
- Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.Muscle & nerve · 2023Article
- Cancer and Myotonic Dystrophy.Journal of clinical medicine · 2023Review
- Automatic Text-Mining Approach to Identify Molecular Target Candidates Associated with Metabolic Processes for Myotonic Dystrophy Type 1.International journal of environmental research and public health · 2023Article
- A Greek National Cross-Sectional Study on Myotonic Dystrophies.International journal of molecular sciences · 2022Article
- Article
- Cutaneous findings in myotonic dystrophy.JAAD international · 2022Article
- Cellular Senescence and Aging in Myotonic Dystrophy.International journal of molecular sciences · 2022Review
- Diabetes, metformin and cancer risk in myotonic dystrophy type I.International journal of cancer · 2020Article
- [Gene-specific treatment approaches in muscle diseases].Der Nervenarzt · 2020Review
- Benign tumors in myotonic dystrophy type I target disease-related cancer sites.Annals of clinical and translational neurology · 2019Article
- Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.Frontiers in neurology · 2019Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundMyotonic dystrophy type 1 (DM1) is an inherited trinucleotide repeat disorder in which specific cancers have been implicated as part of the disease phenotype. This study aimed to assess whether cancer risk in DM1 patients is modified by disease severity.
methodsUsing the United Kingdom Clinical Practice Research Datalink (primary care electronic medical records), we identified a cohort of 927 DM1 and a matched cohort of 13 085 DM1-free individuals between January 1, 1988 and February 29, 2016. We used Cox regression models to calculate the hazard ratios (HRs) and 95% confidence intervals (CIs) of organ-specific cancer risks. Analyses were stratified by age at DM1 diagnosis as a surrogate for disease severity. Statistical tests were two-sided.
resultsPatients with classic DM1 (age at diagnosis: 11-40 years) were at elevated risk of cancer overall (HR = 1.81; 95% CI = 1.12 to 2.93); cancers of the thyroid (HR = 15.93; 95% CI = 2.45 to 103.64), uterus (HR = 26.76; 95% CI = 2.32 to 309.26), and cutaneous melanoma (HR = 5.98; 95% CI = 1.24 to 28.79) accounted for the excess. In late-onset DM1 patients (age at diagnosis >40 years), a reduced overall cancer risk was observed (HR = 0.53; 95% CI = 0.32 to 0.85), possibly driven by the deficit in hematological malignancies (DM1 = 0 cases, DM1-free = 54 cases;
conclusionsThe observed difference in relative cancer risk between classic and late-onset DM1 patients compared with their DM1-free counterparts provides the first evidence that disease severity modifies DM1-related cancer susceptibility. This novel finding may guide clinical management and scientific investigations for the underlying molecular mechanisms in DM-related carcinogenesis.
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Registered trials
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