ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review.Journal of the Endocrine Society · 2026Article
- Molecular biology of pituitary neuroendocrine tumors.Journal of neuro-oncology · 2026Review
- Clinical Implications of Molecular and Genetic Biomarkers in Cushing's Disease: A Literature Review.Journal of clinical medicine · 2025Review
- Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.The Journal of clinical endocrinology and metabolism · 2024Article
- Relevance of mutations in protein deubiquitinases genes andFrontiers in endocrinology · 2024Article
- Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
purposeCushing's disease (CD) is often explained by a single somatic sequence change. Germline defects, however, often go unrecognized. We aimed to determine the frequency and associated phenotypes of genetic drivers of CD in a large cohort.
methodsWe studied 245 unrelated patients with CD (139 female, 56.7%), including 230 (93.9%) pediatric and 15 (6.1%) adult patients. Germline exome sequencing was performed in 184 patients; tumor exome sequencing was also done in 27 of them. A total of 43 germline samples and 92 tumor samples underwent Sanger sequencing of specific genes. Rare variants of uncertain significance, likely pathogenic (LP), or pathogenic variants in CD-associated genes, were identified.
resultsGermline variants (13 variants of uncertain significance, 8 LP, and 11 pathogenic) were found in 8 of 19 patients (42.1%) with positive family history and in 23 of 226 sporadic patients (10.2%). Somatic variants (1 LP and 7 pathogenic) were found in 20 of 119 tested individuals (16.8%); one of them had a coexistent germline defect. Altogether, variants of interest were identified at the germline level in 12.2% of patients, at the somatic level in 7.8%, and coexisting germline and somatic variants in 0.4%, accounting for one-fifth of the cohort.
conclusionWe report an estimate of the contribution of multiple germline and somatic genetic defects underlying CD in a single cohort.
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Registered trials
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