Article
Germline MET pathogenic variants in papillary renal cell carcinomas type I: specific phenotype in French population and novel germline pathogenic variant MET c.3389T>C, p.(Leu1130Ser)
2021-06-02
Abstract excerpt
Hereditary papillary renal cell carcinoma (HPRCC) is a rare inherited renal cancer syndrome characterized by bilateral and multifocal papillary type 1 renal tumors (PRCC1). Activating germline pathogenic variants of MET gene were identified in HPRCC families. We reviewed the medical and molecular records of a large French series of 158 patients screened for MET oncogenic variants (153 index-cases and five relati...
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Identifiers and source
- Literature Corpus work
- 625f603e-ae8c-5c44-9e6a-2b999fed9d57
- DOI
- 10.22541/au.162263710.06329757/v1
