Disrupted In Renal Carcinoma 1 (DIRC1)

Podolski et al. (2001) described a reciprocal, balanced, constitutional chromosome translocation, t(2;3)(q33;q21), that is associated with familial clear cell renal cancer. The gene, designated DIRC1 (disrupted in renal cancer-1), was disrupted between exons 1 and 2 by the familial translocation. The 1.5-kb DIRC1 mRNA encoded an 11-kD predicted protein of 104 amino acids. RT-PCR analysis detected low-level expression of DIRC1 in adult placenta, testis, ovary, and prostate, and in fetal kidney, spleen, and skeletal muscle. Two familial tumors showed loss of the derivative chromosome 3, as observed in a Dutch kindred with t(2;3)-associated renal cancers in a Dutch family. Druck et al. (2001) concluded that further studies were necessary to determine if inactivation of the DIRC1 gene contributes to the development of familial cancers.