%0 Journal Article %T Frequent Germline Mutation in the BRCA2 Gene in Esophageal Squamous Cell Carcinoma Patients from a Low-risk Chinese Population %J Asian Pacific Journal of Cancer Prevention %I West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter. %Z 1513-7368 %D 2011 %\ 07/01/2011 %V 12 %N 7 %P 1771-1776 %! Frequent Germline Mutation in the BRCA2 Gene in Esophageal Squamous Cell Carcinoma Patients from a Low-risk Chinese Population %K BRCA2 gene %K Esophageal squamous cell carcinoma %K Germline mutation %K low-risk population %K China %R %X Background: The incidence of esophageal squamous cell cancer (ESCC) is strikingly variable by geographicarea, which reflect different exposures to risk factors, including genetic predisposition. Previous studies ofESCC patients from several high-risk populations suggested that BRCA2 might play a role in the etiology.This study was conducted to screen for mutations of BRCA2 gene in ESCC cases from a low-risk population.Methods: Forty-seven ESCC patients from a low-risk area of Southeast China were screened for mutations inthe entire coding region of the BRCA2 gene by direct sequencing. Results: No somatic mutations were observedin tumors. In total, 9 germline missense point mutations, each in one patient, were identified in male sporadicpatients, with a mutation frequency of 19%. Of the 9 mutations, 7 were of heterozygous, while the remaining 2were homozygous. Screening of an additional 94 healthy controls for the 9 mutations identified in ESCC casesshowed that there was only 2 (2%) positive individuals, each carrying one of the mutations. Thus the mutationfrequency in ESCC 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 BRCA2 mutations with age, sex,cigarette smoking, alcohol drinking and family history of cancer. Conclusion: This series of cases from a low-riskChinese population presented the highest frequency of germline BRCA2 mutations in ESCC reported to date,highlighting possible etiology roles in this population. %U https://journal.waocp.org/article_25784_de9f679c4ebdc7b76a8d6935fcadc5c7.pdf