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Study investigates germline mutations associated with pheochromocytomas

from Medscape Medical News

An international collaborative study investigating the prevalence and genetic association of FP/TMEM127 mutations with chromaffin cell tumors has found an association with pheochromocytomas, but not with paragangliomas. The mutations cause abnormal intracellular distribution of the protein encoded by the gene. The report in the Journal of the American Medical Association, also noted that germline mutations of FP/TMEM127 are present in patients in their 40s — an age not commonly included in genetic screenings associated with the diagnosis. more


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