BRCA2 mutations as a universal risk factor for pancreatic cancer has a limited role in Korean ethnic group

被引:14
作者
Cho, Jae Hee [1 ]
Bang, Seungmin [1 ]
Park, Seung Woo [1 ]
Chung, Jae Bock [1 ]
Song, Si Young [1 ]
机构
[1] Yonsei Univ, Coll Med, Dept Internal Med, Div Gastroenterol, Seoul 120752, South Korea
关键词
pancreatic cancer; familial pancreatic cancer; BRCA-2; mutation;
D O I
10.1097/MPA.0b013e31815c75ea
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Objectives: BRCA2 mutations are the well-known cause of inherited susceptibility to pancreatic cancer. However, the true association of BRCA2 mutations with pancreatic cancer may vary among different ethnic groups. As such, we aimed to determine the role of BRCA2 mutations as a risk factor for sporadic and familial pancreatic cancer in Korean patients. Methods: Between January 1998 to October 2002, 110 patients with pancreatic ductal adenocarcinoma gave informed consent for pedigree cancer survey. Analysis of BRCA2 mutations was done in 60 of those patients, all of whom agreed to genetic test. BRCA2 mutation was analyzed by denaturing high-performance liquid chromatography and direct sequencing. Results: Among the 110 patients, 8 cases (7.2%) were confirmed as familial pancreatic cancer. Therewere no pathogenicBRCA2 truncation mutations in 60 patients with BRCA2 mutation analysis. However, 2 single polymorphic amino acid changes, C1342A(H372N), A3199G(N991D), a silent polymorphism A7470G(S2414S), a splice site mutation intron 16:- 14(T to C) polymorphism, and an intron 16:- 12 (T to C) unclassified variant were detected in both 9 of 53 sporadic and 1 of 7 familial pancreatic cancer patients. Conclusions: Our results suggest that the BRCA2 mutation may not contribute to increases in the risk for both sporadic and familial pancreatic cancer in Korea.
引用
收藏
页码:337 / 340
页数:4
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