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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Yagi, Yasuto; Abeto, Naoko; Shiraishi, Junichi; Miyata, Chieko; Inoue, Satomi; Murakami, Haruka; Nakashima, Moeko; Sugano, Kokichi; Ushiama, Mineko; Yoshida, Teruhiko; Yamazawa, Kazuki.
Afiliación
  • Yagi Y; Department of Urology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Abeto N; Department of Pathology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Shiraishi J; Department of Pathology, National Cancer Center Hospital, Tokyo, Japan.
  • Miyata C; Department of Pathology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Inoue S; Department of Palliative Care Medicine, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Murakami H; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Nakashima M; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Sugano K; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Ushiama M; Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Tokyo, Japan.
  • Yoshida T; Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
  • Yamazawa K; Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
Hum Genome Var ; 9(1): 3, 2022 Jan 17.
Article en En | MEDLINE | ID: mdl-35034951
ABSTRACT
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_000143.3c.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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2022 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2022 Tipo del documento: Article País de afiliación: Japón