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

16 Nov 2018

Abstract excerpt

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). MATERIALS AND METHODS: Blood and tumor DNA from three family members who presented with a primary diagnosis of MEST was subjected to targeted gene sequencing to identify...

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PMID: 30452964
DOI: 10.1016/j.urology.2018.11.013

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