[Gliomas and BRCA genes mutations: fortuitous association or imputability?].

Abstract:

: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.

journal_name

Bull Cancer

journal_title

Bulletin du cancer

authors

Girardstein-Boccara L,Mari V,Met-Domestici M,Burel-Vandenbos F,Berthet P,Paquis P,Frenay MP,Lebrun-Frenay C

doi

10.1684/bdc.2014.1952

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

795-802

issue

9

eissn

0007-4551

issn

1769-6917

pii

bdc.2014.1952

journal_volume

101

pub_type

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