Journal article

Novel pheochromocytoma susceptibility loci identified by integrative genomics

PLM Dahia, K Hao, J Rogus, C Colin, MAG Pujana, K Ross, D Magoffin, N Aronin, A Cascon, CY Hayashida, C Li, SPA Toledo, CD Stiles

Cancer Research | AMER ASSOC CANCER RESEARCH | Published : 2005

Abstract

Pheochromocytomas are catecholamine-secreting tumors that result from mutations of at least six different genes as components of distinct autosomal dominant disorders. However, there remain familial occurrences of pheochromocytoma without a known genetic defect. We describe here a familial pheochromocytoma syndrome consistent with digenic inheritance identified through a combination of global genomics strategies. Multipoint parametric linkage analysis revealed identical LOD scores of 2.97 for chromosome 2cen and 16p13 loci. A two-locus parametric linkage analysis produced maximum LOD score of 5.16 under a double recessive multiplicative model, suggesting that both loci are required to develo..

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