Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing

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Cromer, M. Kyle (author)

Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing

Article/chapterEnglish2012

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The Endocrine Society,2012
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LIBRIS-ID:oai:DiVA.org:uu-183226
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183226URI
https://doi.org/10.1210/jc.2012-1743DOI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype

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Context: The underlying molecular alterations causing sporadic parathyroid adenomas that drive primary hyperparathyroidism have not been thoroughly defined.Objective: The aim of the study was to investigate the occurrence of somatic mutations driving tumor formation and progression in sporadic parathyroid adenoma using whole-exome sequencing.Design: Eight matched tumor-constitutional DNA pairs from patients with sporadic parathyroid adenomas underwent whole-exome capture and high-throughput sequencing. Selected genes were analyzed for mutations in an additional 185 parathyroid adenomas.Results: Four of eight tumors displayed a frame shift deletion or nonsense mutation in MEN1, which was accompanied by loss of heterozygosity of the remaining wild-type allele. No other mutated genes were shared among the eight tumors. One tumor harbored a Y641N mutation of the histone methyltransferase EZH2 gene, previously linked to myeloid and lymphoid malignancy formation. Targeted sequencing in the additional 185 parathyroid adenomas revealed a high rate of MEN1 mutations (35%). Furthermore, this targeted sequencing identified an additional parathyroid adenoma that contained the identical, somatic EZH2 mutation that was found by exome sequencing.Conclusion: This study confirms the frequent role of the loss of heterozygosity of chromosome 11 and MEN1 gene alterations in sporadic parathyroid adenomas and implicates a previously unassociated methyltransferase gene, EZH2, in endocrine tumorigenesis.

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MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng

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Starker, Lee F.Uppsala universitet,Experimentell kirurgi(Swepub:uu)leest428 (author)
Choi, Murim (author)
Udelsman, Robert (author)
Nelson-Williams, Carol (author)
Lifton, Richard P. (author)
Carling, Tobias (author)
Uppsala universitetExperimentell kirurgi (creator_code:org_t)

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In:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society97:9, s. E1774-E17810021-972X1945-7197

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By the author/editor: Cromer, M. Kyle; Starker, Lee F.; Choi, Murim; Udelsman, Robert; Nelson-Williams, ...; Lifton, Richard ...; show more...; Carling, Tobias; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...

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By the university: Uppsala University

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