Frequent germline mutation in the @entity2674 gene in esophageal squamous cell carcinoma XXXX from a low-risk Chinese population.

@entity1 @entity5 @entity167 @entity2674 @entity1544
BACKGROUND: The incidence of @entity1544 ( @entity1544 ) is strikingly variable by geographic area, which reflect different exposures to risk factors, including genetic predisposition. Previous studies of @entity1544 @entity1 from several high-risk populations suggested that @entity2674 might play a role in the etiology. This study was conducted to screen for mutations of @entity2674 gene in @entity1544 cases from a low-risk population. METHODS: Forty-seven @entity1544 @entity1 from a low-risk area of Southeast China were screened for mutations in the entire coding region of the @entity2674 gene by direct sequencing. RESULTS: No somatic mutations were observed in @entity5 . In total, 9 germline missense point mutations, each in one @entity1 , were identified in male sporadic @entity1 , with a mutation frequency of 19%. Of the 9 mutations, 7 were of heterozygous, while the remaining 2 were homozygous. Screening of an additional 94 healthy controls for the 9 mutations identified in @entity1544 cases showed that there was only 2 (2%) positive individuals, each carrying one of the mutations. Thus the mutation frequency in @entity1544 cases (19%) was significantly higher than that in healthy controls (OR = 10.9, 95% CI = 2.2-52.8, P = 0.003). No significant associations were observed for germline @entity2674 mutations with age, sex, cigarette smoking, @entity167 drinking and family history of @entity5 . CONCLUSION: This series of cases from a low-risk Chinese population presented the highest frequency of germline @entity2674 mutations in @entity1544 reported to date, highlighting possible etiology roles in this population.
