Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

Ylisaukko-oja, Sanna K; Cybulski, Cezary; Lehtonen, Rainer; Kiuru, Maija; Matyjasik, Joanna; Szymañska, Anna; Szymañska-Pasternak, Jolanta; Dyrskjot, Lars; Butzow, Ralf; Orntoft, Torben F; Launonen, Virpi; Lubiñski, Jan; Aaltonen, Lauri A

Ylisaukko-oja, Sanna K; Cybulski, Cezary; Lehtonen, Rainer; Kiuru, Maija; Matyjasik, Joanna; Szymañska, Anna; Szymañska-Pasternak, Jolanta; Dyrskjot, Lars; Butzow, Ralf; Orntoft, Torben F; Launonen, Virpi; Lubiñski, Jan; Aaltonen, Lauri A.

Afiliación

Ylisaukko-oja SK; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

Eur J Hum Genet ; 14(7): 880-3, 2006 Jul.

Article en En | MEDLINE | ID: mdl-16639410

RESUMEN

Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were analyzed for somatic FH mutations. Two patients diagnosed with ovarian mucinous cystadenoma (two out of 33, 6%) were found to be FH germline mutation carriers. One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC.

Asunto(s)

Cistoadenoma Mucinoso/genética; Fumarato Hidratasa/genética; Mutación de Línea Germinal; Síndromes Neoplásicos Hereditarios/genética; Neoplasias Ováricas/genética; Carcinoma de Células Renales/genética; Cistadenocarcinoma Mucinoso/genética; Femenino; Genes Dominantes; Humanos; Neoplasias Renales/genética; Leiomioma/genética; Masculino; Neoplasias/genética; Neoplasias Cutáneas/genética; Neoplasias de la Vejiga Urinaria/genética

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Síndromes Neoplásicos Hereditarios / Mutación de Línea Germinal / Cistoadenoma Mucinoso / Fumarato Hidratasa Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2006 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido

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