Gliomes et mutations des gènes BRCA: association fortuite ou imputabilité?
| Autor: | Véronique Mari, Laura Girardstein-Boccara, Fanny Burel-Vandenbos, Philippe Paquis, Pascaline Berthet, Christine Lebrun-Frenay, Marie Met-Domestici, Marc Frenay |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Cancer Research
Tumor suppressor gene business.industry medicine.medical_treatment Hematology General Medicine Gene mutation medicine.disease Lymphoma Radiation therapy Prostate cancer medicine.anatomical_structure Germline mutation Oncology Glioma medicine Cancer research Radiology Nuclear Medicine and imaging skin and connective tissue diseases Pancreas business |
| Zdroj: | Bulletin du Cancer. 101:795-802 |
| ISSN: | 0007-4551 |
| DOI: | 10.1684/bdc.2014.1952 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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