Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.

Journal article

Germline mutations in the von Hippel-Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC). Dysregulation of the hypoxia-inducible factor (HIF) transcription factors has been linked to VHL and SDHB-related RCC; both HIF dysregulation and disordered function of a prolyl hydroxylase domain isoform 3 (PHD3/EGLN3)-related pathway of neuronal apoptosis have been linked to the development of phaeochromocytoma....

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Authors: Astuti, D; Ricketts, C; Chowdhury, R; McDonough, M; Gentle, D

• Publication status: Published
• Journal: Endocrine-related cancer
• Volume: 18
• Issue: 1
• Pages: 73-83
• Publication date: 2011-02-01
• DOI: 10.1677/erc-10-0113
• EISSN: 1479-6821
• ISSN: 1351-0088
• Language: English
• Keywords: Amino Acid Sequence; Rats, Sprague-Dawley; Base Sequence; Kidney Neoplasms; Female; Molecular Sequence Data; Procollagen-Proline Dioxygenase; Adult; Carcinoma, Renal Cell; Animals; Male; Adrenal Gland Neoplasms; Child, Preschool; Child; Phenotype; Young Adult; Humans; Adolescent; Animals, Newborn; Tumor Cells, Cultured; Sequence Homology, Amino Acid; Rats; Pheochromocytoma; DNA Mutational Analysis; Genetic Predisposition to Disease