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CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors

  1. Author:
    Vocke, Cathy D.
    Ricketts, Christopher J.
    Ball, Mark W.
    Schmidt, Laura
    Metwalli, Adam R.
    Middelton, Lindsay
    Killian, J. Keith
    Khan, Javed
    Meltzer, Paul S.
    Simonds, William F.
    Merino, Maria J.
    Linehan, W. Marston
  2. Author Address

    NCI, Urol Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Basic Sci Program, Frederick, MD USA.Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Clin Monitoring Res Program, Clin Res Directorate, Frederick, MD USA.NCI, Genet Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.NIDDK, Metab Dis Branch, NIH, Bethesda, MD 20892 USA.NCI, Lab Pathol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.
    1. Year: 2019
    2. Date: FEB
    3. Epub Date: 2018 11 16
  1. Journal: Urology
  2. ELSEVIER SCIENCE INC,
    1. 124
    2. Pages: 91-97
  3. Type of Article: Article
  4. ISSN: 0090-4295
  1. Abstract:

    OBJECTIVE To 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).

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External Sources

  1. DOI: 10.1016/j.urology.2018.11.013
  2. PMID: 30452964
  3. PMCID: PMC6382532
  4. WOS: 000458784000023

Library Notes

  1. Fiscal Year: FY2018-2019
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