Study of Hereditary Renal and Other Familial Syndromes

$145,493ZIAFY2025CANIH

Division Of Basic Sciences - Nci

Investigators

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Abstract

New Hereditary tumors have been identified over time. We have studied a family with an unusual type of tumor called Mixed epithelial and stromal tumor of the kidney, never before known or reported to occur in families, and were identified to have a common germ line mutation in CDC73 a gene associated with hyperparathyroidism-jaw tumor syndrome. Studies are on going of the possibility of benign tumors or Oncocytomas, to occur in families and molecular analysis of these neoplasms is also on going to identify the molecular alterations of Oncocytomas.

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