ArticleEndocrine-related cancer2020
Genotype of CDC73 germline mutation determines risk of parathyroid cancer.
Article in Endocrine-related cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- PAF1c depletion confers chemoresistance to topoisomerase inhibitors.Cell insight · 2026Article
- Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- Human Chorionic Gonadotropin as a Marker of Parathyroid Carcinoma: Findings From a Scoping Review.Cureus · 2025Review
- Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Basic-Clinical Analysis of Parathyroid Cancer.Biomedicines · 2025Review
- The prognostic value of ultrasound features and parafibromin expression in parathyroid carcinoma.Orphanet journal of rare diseases · 2025Article
- Use of Olaparib in the Management of Metastatic Parathyroid Carcinoma WithJCEM case reports · 2025Article
- A Novel PathogenicJCEM case reports · 2025Article
- A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.The Journal of clinical endocrinology and metabolism · 2025Article
- The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.Calcified tissue international · 2025Article
- Article
- The Consistency ofInternational journal of endocrinology · 2025Review
- Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.Case reports in endocrinology · 2025Article
- Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.Journal of clinical medicine · 2024Review
- Detection and identification of circulating tumor cells in parathyroid tumors and correlation analysis with clinicopathological features.Endocrine · 2024Article
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Article
- A family case report of parathyroid carcinoma associated withFrontiers in endocrinology · 2024Article
- Case report: Ultrasound misdiagnoses atypical parathyroid adenoma as malignant thyroid tumor.Frontiers in oncology · 2024Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
Mutation of the CDC73 gene, which encodes parafibromin, has been linked with parathyroid cancer. However, no correlation between genotypes of germline CDC73 mutations and the risk of parathyroid cancer has been known. In this study, subjects with germline CDC73 mutations were identified from the participants of two clinical protocols at National Institutes of Health (Discovery Cohort) and from the literature (Validation Cohort). The relative risk of developing parathyroid cancer was analyzed as a function of CDC73 genotype, and the impact of representative mutations on structure of parafibromin was compared between genotype groups. A total of 419 subjects, 68 in Discovery Cohort and 351 in Validation Cohort, were included. In both cohorts, percentages of CDC73 germline mutations that predicted significant conformational disruption or loss of expression of parafibromin (referred as 'high-impact mutations') were significantly higher among the subjects with parathyroid cancers compared to all other subjects. The Kaplan-Meier analysis showed that high-impact mutations were associated with a 6.6-fold higher risk of parathyroid carcinoma compared to low-impact mutations, despite a similar risk of developing primary hyperparathyroidism between two groups. Disruption of the C-terminal domain (CTD) of parafibromin is directly involved in predisposition to parathyroid carcinoma, since only the mutations impacting this domain were associated with an increased risk of parathyroid carcinoma. Structural analysis revealed that a conserved surface structure in the CTD is universally disrupted by the mutations affecting this domain. In conclusion, high-impact germline CDC73 mutations were found to increase risk of parathyroid carcinoma by disrupting the CTD of parafibromin.
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