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[Gliomas and BRCA genes mutations: fortuitous association or imputability?]. / Gliomes et mutations des gènes BRCA : association fortuite ou imputabilité ?
Girardstein-Boccara, Laura; Mari, Véronique; Met-Domestici, Marie; Burel-Vandenbos, Fanny; Berthet, Pascaline; Paquis, Philippe; Frenay, Marc Paul; Lebrun-Frenay, Christine.
Afiliación
  • Girardstein-Boccara L; CHU Pasteur, Fédération de neuro-oncologie, Neurologie, 30, voie Romaine, 06000 Nice, France.
  • Mari V; Centre Antoine-Lacassagne, Département d'oncogénétique, 06100 Nice, France.
  • Met-Domestici M; Centre Antoine-Lacassagne, Département d'oncogénétique, 06100 Nice, France.
  • Burel-Vandenbos F; CHU Pasteur, Fédération de neuro-oncologie, Neurologie, 30, voie Romaine, 06000 Nice, France.
  • Berthet P; Centre de lutte contre le cancer François-Baclesse, 14000 Caen, France.
  • Paquis P; CHU Pasteur, Fédération de neuro-oncologie, Neurologie, 30, voie Romaine, 06000 Nice, France.
  • Frenay MP; Centre Antoine-Lacassagne, Département d'oncogénétique, 06100 Nice, France.
  • Lebrun-Frenay C; CHU Pasteur, Fédération de neuro-oncologie, Neurologie, 30, voie Romaine, 06000 Nice, France.
Bull Cancer ; 101(9): 795-802, 2014 Sep.
Article en Fr | MEDLINE | ID: mdl-25295380
BRCA is a tumor suppressor gene implicated in the major mechanisms of cellular stability in every type of cell. Its mutations are described in numerous cancers, mainly breast and ovarian in women. It was also found an increase of lifetime risk of pancreas, colon, prostate cancer or lymphoma in men carriers. We report the cases of two female patients aged 40 and 58-years-old female patients and one 35-years-old male patient, with brain or medullar gliomas, carriers of a germline mutation of BRCA gene. Those gliomas were particularly aggressive and were not responding to the standard treatment, with chemo and radiotherapy. The very unusual characteristics in location and evolutive profile of these central nervous system tumors raise the question of a genetical underlying mechanism, maybe linked to the BRCA gene mutation that carry these patients. In addition, a non-fortuitous association between germline mutation of BRCA and occurrence of a glioma can be evoked according to the embryological, epidemiological and biomolecular findings noted in the literature. Other clinical and experimental studies are necessary to precise the physiopathological link existing between BRCA mutations and the occurrence of a glioma; this could have therapeutical and clinical implications in the future.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias de la Médula Espinal / Neoplasias Encefálicas / Genes BRCA1 / Glioma / Mutación Tipo de estudio: Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: Fr Revista: Bull Cancer Año: 2014 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias de la Médula Espinal / Neoplasias Encefálicas / Genes BRCA1 / Glioma / Mutación Tipo de estudio: Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: Fr Revista: Bull Cancer Año: 2014 Tipo del documento: Article País de afiliación: Francia