ArticleUrology2019
CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors.
Article in Urology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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
17 citing papers in PubMed, 25 citations in OpenAlex.
- Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.International journal of molecular sciences · 2026Article
- Incidental early mixed epithelial and stromal tumor of the efferent testicular-ductular system of the genitourinary tract: A small case series with literature review.Pathology, research and practice · 2025Review
- Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2023Article
- Hereditary Renal Cell Carcinoma Syndromes.Hematology/oncology clinics of North America · 2023Review
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Recurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report.Cureus · 2023Article
- A NovelJCEM case reports · 2023Article
- A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.Diagnostic pathology · 2022Article
- Epidemiology and Prevention of Renal Cell Carcinoma.Cancers · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- A 25 year perspective on the evolution and advances in an understanding of the biology, evaluation and treatment of kidney cancer.Urologic oncology · 2021Review
- Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management.Genes · 2021Review
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- Clinical and Molecular Genetics of Primary Hyperparathyroidism.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2020Review
- Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.International journal of endocrinology · 2019Review
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 2 institutions in 1 country.
Funding
Abstract
objectiveTo describe a family in which 3 members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). MATERIALS AND
methodsBlood and tumor DNA from three family members who presented with a primary diagnosis of MEST was subjected to targeted gene sequencing to identify potential genetic components.
resultsA germline start codon mutation (p.M1I) in CDC73 was identified in all 3 family members who presented with MEST and 2 tumors from 1 patient demonstrated somatic copy-neutral loss of heterozygosity. Patients presented with no evidence of hyperparathyroidism or jaw tumors, but both female patients had hysterectomies at an early age due to excessive bleeding and numerous fibroids, which is common in HPT-JT. A germline p.M1I mutation has been previously reported in a family with clinical features of HPT-JT.
conclusionPatients with MEST may be at risk for HPT-JT and CDC73 germline mutation testing of MEST patients should be considered.
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What OpenQuestion holds
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.