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

 Jae Hee Cho  ;  Seungmin Bang  ;  Seung Woo Park  ;  Jae Bock Chung  ;  Si Young Song 
 PANCREAS, Vol.36(4) : 337-340, 2008 
Journal Title
Issue Date
Adenocarcinoma/blood ; Adenocarcinoma/epidemiology ; Adenocarcinoma/genetics* ; Adenocarcinoma/pathology ; Aged ; Alternative Splicing ; Apoptosis Regulatory Proteins ; BRCA2 Protein/blood ; BRCA2 Protein/genetics* ; Ethnic Groups/statistics & numerical data ; Family ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation* ; Humans ; Incidence ; Korea/epidemiology ; Male ; Middle Aged ; Pancreatic Neoplasms/blood ; Pancreatic Neoplasms/epidemiology ; Pancreatic Neoplasms/genetics* ; Pancreatic Neoplasms/pathology ; Polymorphism, Single Nucleotide* ; Risk Factors
pancreatic cancer ; familial pancreatic cancer ; BRCA-2 ; mutation
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. BRCA 2 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. There were no pathogenic BRCA2 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.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Park, Seung Woo(박승우) ORCID logo https://orcid.org/0000-0001-8230-964X
Bang, Seungmin(방승민) ORCID logo https://orcid.org/0000-0001-5209-8351
Song, Si Young(송시영) ORCID logo https://orcid.org/0000-0002-1417-4314
Chung, Jae Bock(정재복)
Cho, Jae Hee(조재희) ORCID logo https://orcid.org/0000-0003-4174-0091
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