UNASSIGNED: 20 Background: @entity0 is the most common @entity5 affecting @entity1 of Middle Eastern origin. Epidemiologically, @entity0 in the Middle East clusters in families and usually affects @entity1 a decade younger than Western @entity1 . This dilemma is compounded by the lack of curated databases and ambitious studies that address the roles genetic or genomic may play in @entity0 . METHODS: We have exome sequenced 60 Middle Eastern @entity1 with moderate and strong family history of @entity5 or young @entity1 without significant family history of @entity5 . DNA extracted from peripheral blood of @entity1 and matching normal Middle Eastern @entity1 without history of @entity5 , were subjected to whole-exome sequencing using the HiSeq 2500 Illumina platform and MLPA to map major @entity0 . RESULTS: Several novel @entity6069 mutations were identified in the minority of these @entity1 . However, other complex mutations in non- @entity6069 genes appear to play a more subtle role in @entity0 in the Middle Eastern @entity1 . Germline mutations in @entity876 , @entity36524 and mismatch repair genes were more frequent than expected by chance. CONCLUSIONS: @entity6069 gene mutations are not a significant cause of heritable @entity5 in the Middle East. The region may benefit from a well-curated region-specific database accessible to clinicians and scientists where clinical and variants information can be deposited from all over the Middle East.

Germline mutations in early-onset or XXXX from the Middle East.

@entity1 :: ('9606', 'Species') :: ['women', 'patients'] @entity0 :: ('MESH:D001943', 'Disease') :: ['Breast cancer', 'breast cancer-activating genetic defects', 'breast cancer'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers', 'cancer', 'familial or sporadic cancers'] @entity876 :: ('7157', 'Gene') :: ['TP-53'] @entity6069 :: ('672;675', 'Gene') :: ['BRCA1/2'] @entity36524 :: ('580', 'Gene') :: ['BARD1']
@entity0 :: (MESH:D001943,Disease) :: ['hereditary breast cancer']
