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Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the  FH  gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of  FH , NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma