ArticleMolecular cancer2008
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.
Article in Molecular cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 78 citations in OpenAlex.
- Novel CTNNB1 gene mutations reveal critical pathogenic mechanisms in pediatric hepatoblastoma.Pediatric surgery international · 2025Article
- Review
- [Genetic profiling of parathyroid tumours: lifting the veil of mystery].Problemy endokrinologii · 2025Review
- Wnt/β-catenin signaling pathway in carcinogenesis and cancer therapy.Journal of hematology & oncology · 2024Review
- Comprehensive analysis of mitochondrial DNA variants, mitochondrial DNA copy number and oxidative damage in psoriatic arthritis.Biomedical reports · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Identification of protein phosphatase 4 catalytic subunit as a Wnt promoting factor in pan-cancer and Xenopus early embryogenesis.Scientific reports · 2023Article
- Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population.The Journal of clinical endocrinology and metabolism · 2023Article
- Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing.Frontiers in endocrinology · 2023Article
- Article
- Genetic and Epigenetic Alterations in Parathyroid Neoplasms.Iranian journal of pathology · 2022Review
- Cell-Free DNA Analysis by Whole-Exome Sequencing for Hepatocellular Carcinoma: A Pilot Study in Thailand.Cancers · 2021Article
- Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice.Endocrine pathology · 2021Review
- Article
- Benign Adrenocortical Tumors and the Detection of Nonadrenal Neoplasia.International journal of endocrinology · 2019Article
- Clinical Impact of p27Endocrine pathology · 2018Article
- Diagnosis, management, histology and genetics of sporadic primary hyperparathyroidism: old knowledge with new tricks.Endocrine connections · 2018Review
- CTNNB1 Mutation in Aldosterone Producing Adenoma.Endocrinology and metabolism (Seoul, Korea) · 2017Review
- The interaction between the Wnt/β-catenin signaling cascade and PKG activation in cancer.Journal of biomedical research · 2017Article
- Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAberrant accumulation of beta-catenin plays an important role in a variety of human neoplasms. We recently reported accumulation of beta-catenin in parathyroid adenomas from patients with primary hyperparathyroidism (pHPT). In CTNNB1 exon 3, we detected a stabilizing mutation (S37A) in 3 out of 20 analyzed adenomas. The aim of the present study was to determine the frequency and zygosity of mutations in CTNNB1 exon 3, and beta-catenin accumulation in a large series of parathyroid adenomas of Swedish patients.
resultsThe mutation S37A (TCT > GCT) was detected by direct DNA sequencing of PCR fragments in 6 out of 104 sporadic parathyroid adenomas (5.8%). Taking our previous study into account, a total of 9 out of 124 (7.3%) adenomas displayed the same mutation. The mutations were homozygous by DNA sequencing, restriction enzyme cleavage, and gene copy number determination using the GeneChip 500 K Mapping Array Set. All tumors analyzed by immunohistochemistry, including those with mutation, displayed aberrant beta-catenin accumulation. Western blotting revealed a slightly higher expression level of beta-catenin and nonphosphorylated active beta-catenin in tumors with mutation compared to those without. Presence of the mutation was not related to distinct clinical characteristics.
conclusionAberrant accumulation of beta-catenin is very common in parathyroid tumors, and is caused by stabilizing homozygous mutation in 7.3% of Swedish pHPT patients.
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