A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
HUMAN GENOME VARIATION(2022)
摘要
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.
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关键词
Cancer genetics,Genetics research,Renal cell carcinoma,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy
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