ArticleBMC medical genomics2018
Exome analysis of carotid body tumor.
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Immunohistochemistry and Mutation Analysis ofInternational journal of molecular sciences · 2020Trial
- Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.Cancer discovery · 2025Article
- Comparative exploration of the carotid body in domestic animals: morphology, physiology, histology, and pathology.Frontiers in veterinary science · 2024Review
- Proteomics analysis of carotid body tumor revealed potential mechanisms and molecular differences among Shamblin classifications.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- Article
- Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- Diagnosis and treatment of carotid body tumors.American journal of translational research · 2021Article
- Mutation profiling in eight cases of vagal paragangliomas.BMC medical genomics · 2020Article
- Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school.BMC medical genomics · 2020Article
- Multiple paragangliomas: a case report.BMC medical genomics · 2020Article
- Recent Advances in Histopathological and Molecular Diagnosis in Pheochromocytoma and Paraganglioma: Challenges for Predicting Metastasis in Individual Patients.Frontiers in endocrinology · 2020Review
- Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations.Endocrine pathology · 2019Article
- Novel potential causative genes in carotid paragangliomas.BMC medical genetics · 2019Article
- Mutational load in carotid body tumor.BMC medical genomics · 2019Article
- Medical genomics at Belyaev Conference - 2017.BMC medical genomics · 2018Article
Corrections and comments
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Authors and funding
26 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCarotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated.
methodsExome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA). Sequencing was performed on NextSeq 500 System (Illumina).
resultsExome analysis of 52 CBTs revealed potential driver mutations (PDMs) in 21 genes: ARNT, BAP1, BRAF, BRCA1, BRCA2, CDKN2A, CSDE1, FGFR3, IDH1, KIF1B, KMT2D, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SETD2, TP53BP1, TP53BP2, and TP53I13. In many samples, more than one PDM was identified. There are also 41% of samples in which we did not identify any PDM; in these cases, the formation of CBT was probably caused by the cumulative effect of several not highly pathogenic mutations. Estimation of average mutation load demonstrated 6-8 mutations per megabase (Mb). Genes with the highest mutation rate were identified.
conclusionsExome analysis of 52 CBTs for the first time revealed the average mutation load for these tumors and also identified potential driver mutations as well as their frequencies and co-occurrence with the other PDMs.
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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.