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GTR Home > Conditions/Phenotypes > Papillary renal cell carcinoma type 1

Summary

Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AUTS9, DA11, DFNB97, HGFR, RCCP2, c-Met, MET
    Summary: MET proto-oncogene, receptor tyrosine kinase

  • Also known as: RCCP1, TPRC, PRCC
    Summary: proline rich mitotic checkpoint control factor

Clinical features

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