UNASSIGNED: e12001 Background: Germline mutations in @entity5345 increase the risk of @entity5344 and @entity5 at other sites. No specific association has been reported between @entity5345 mutation and @entity5 occurrence. METHODS: A 35 year old @entity1 was diagnosed with an @entity3271 after experiencing generalized @entity410 . Familial history reported 3 @entity43 . Genetic testing has been performed and shown the @entity5345 exonic deletion @entity53009 , p.1241ter. The test that has been ruled on our @entity1 was positive too. The @entity1 was treated with a first line chemotherapy ( @entity1485 -regimen). Brain radiotherapy (RT) was recommended but refused by the @entity1 and a second line of CT with @entity2903 began. The @entity1 was given RT after secondary progression. Post RT MRI showed again a progression and the @entity1 deceased 16 months after the diagnosis. Unexpectedly @entity5 immunohistochemistry with @entity5345 antibodies showed normal staining, thus unabling to assess the germline mutation in @entity5 sample. RESULTS: Mutations in the @entity5 suppressor genes @entity5345 and @entity2674 are responsible for approximately 25-40% of @entity0 . Mutations in the @entity5345 gene have not yet been associated with the development of sporadic and inherited @entity11 . Meanwhile @entity0 and @entity463 share several genetic and molecular features which can play a role in the pathogenesis, DNA repair mechanisms and treatment sensitivity. @entity463 can be related with @entity74 that also predispose towards @entity0 , including @entity8357 -Fraumeni ( @entity876 mutation) and Cowden ( @entity983 mutation) syndromes. CONCLUSIONS: Genetic alterations in @entity5 suppressor genes, both inherited and sporadic, are involved in the carcinogenesis of many tissues. This case report points out the possible relationship between @entity5345 germline mutation and anaplastic @entity11 occurrence. Whereas it underlines the relevance of familial history of @entity5 screening not to neglect @entity4310 susceptibility in @entity11 @entity1 .

Association of @entity3271 and XXXX mutation in males: Importance of clinical reflection and counseling.

@entity1 :: ('9606', 'Species') :: ['patient', 'man', 'patients'] @entity43 :: ('MESH:D010051', 'Disease') :: ['ovarian cancers'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizure'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['breast and ovarian cancers'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast carcinoma', 'inherited breast cancers', 'breast cancer'] @entity8357 :: ('D008094', 'Chemical') :: ['Li'] @entity5345 :: ('672', 'Gene') :: ['BRCA1', 'BRCA'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers', 'tumor', 'glial tumor', 'cancer', 'tumour'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity53009 :: ('c|DEL|3819|GTAAA', 'DNAMutation') :: ['c.3819delGTAAA'] @entity11 :: ('MESH:D005910', 'Disease') :: ['malignant gliomas', 'glioma'] @entity876 :: ('7157', 'Gene') :: ['p53'] @entity983 :: ('5728', 'Gene') :: ['PTEN'] @entity74 :: ('MESH:D030342', 'Disease') :: ['several inherited disorders'] @entity1485 :: ('158372', 'Species') :: ['PCV'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['hereditary cancer'] @entity2903 :: ('MESH:C047246', 'Chemical') :: ['temozolomide'] @entity463 :: ('MESH:D005909', 'Disease') :: ['glioblastoma', 'Moreover glioblastoma'] @entity3271 :: ('MESH:D009837', 'Disease') :: ['anaplastic oligodendroglioma']
@entity5345 :: (672,Gene) :: ['BRCA1']
