Article
MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours.
Familial cancer - 1 Mar 2014
Crona Joakim, Maharjan Rajani, Delgado Verdugo Alberto, Stålberg Peter, Granberg Dan, Hellman Per, Björklund Peyman
Abstract excerpt
Pheochromocytoma (PCC) and Paraganglioma are rare tumours originating from neuroendocrine cells. Up to 60% of cases have either germline or somatic mutation in one of eleven described susceptibility loci, SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127 and MYC associated factor-X (MAX). Recently, germline mutations in MAX were found to confer susceptibility to PCC and paraganglioma (PGL). A...
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