BACKGROUND: Recurrent @entity74 that correlate with clinical features could be used to determine @entity1 ' prognosis, select treatments and predict responses to therapy. @entity1721 ( @entity1721 ) contains genomic alterations of undefined clinical significance. We aimed to identify mutually exclusive mutations that are frequently detected in ESCCs and characterized their associations with clinical variables. METHODS: We analyzed next-generation-sequencing data from 104 ESCCs from Taihang Mountain region of China; 96 pairs were selected for deep target-capture-based validation and analysis of clinical and pathology data. We used model proposed by Szczurek to identify exclusive mutations and to associate these with pathology findings. Univariate and multivariate analyses with Cox proportional hazards model were used to examine the association between mutations and overall survival and response to chemotherapy. Findings were validated in an analysis of samples from 89 @entity1 with @entity1721 from Taihang Mountain. RESULTS: We identified statistically significant mutual exclusivity between mutations in @entity125 and @entity10160 in @entity1721 samples. Mutations in @entity125 were associated with well-differentiated, early-stage @entity5 and less @entity3 to regional lymph nodes. Nonetheless, @entity1 with @entity125 mutations had shorter survival times than @entity1 without @entity125 mutations, and failed to respond to chemotherapy. In contrast, @entity1 with mutations in @entity10160 had better responses to chemotherapy and longer survival times than @entity1 without @entity10160 mutations. CONCLUSIONS: In a genetic analysis of ESCCs from @entity1 in China, we identified mutually exclusive mutations in @entity125 and @entity10160 . These findings might increase our understanding of @entity1721 development and be used as prognostic factors.

Mutually exclusive mutations in XXXX and @entity10160 associated with clinical prognosis and chemotherapy responses of @entity1721 in China.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignancy'] @entity1721 :: ('MESH:C562729', 'Disease') :: ['ESCC', 'Esophageal squamous cell carcinoma'] @entity125 :: ('4851', 'Gene') :: ['NOTCH1'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic abnormalities'] @entity3 :: ('MESH:D009362', 'Disease') :: ['metastasis'] @entity10160 :: ('5290', 'Gene') :: ['PIK3CA']
@entity125 :: (4851,Gene) :: ['NOTCH1']
