Abstract
Pancreatic cancer shows very poor prognosis and is the fifth leading cause of cancer death in Japan. Previous studies indicated some genetic factors contributing to the development and progression of pancreatic cancer; however, there are limited reports for common genetic variants to be associated with this disease, especially in the Asian population. We have conducted a genome-wide association study (GWAS) using 991 invasive pancreatic ductal adenocarcinoma cases and 5,209 controls, and identified three loci showing significant association (P-value<5×10−7) with susceptibility to pancreatic cancer. The SNPs that showed significant association carried estimated odds ratios of 1.29, 1.32, and 3.73 with 95% confidence intervals of 1.17–1.43, 1.19–1.47, and 2.24–6.21; P-value of 3.30×10−7, 3.30×10−7, and 4.41×10−7; located on chromosomes 6p25.3, 12p11.21 and 7q36.2, respectively. These associated SNPs are located within linkage disequilibrium blocks containing genes that have been implicated some roles in the oncogenesis of pancreatic cancer.
Highlights
Pancreatic cancer is the fifth leading cause of cancer death with an estimated death of 24,634 patients in Japan in year 2007
Several case-control and cohort epidemiological studies have identified a number of possible risk factors such as smoking [3], diabetes [4], chronic pancreatitis [5], which are likely to predispose individual to the disease
Familial aggregation of the disease has implied the possible involvement of genetic factors in pancreatic cancer [6]; approximately 10% of the patients were reported to have family history and individuals having first-degree relatives with pancreatic cancer revealed 2- to 4- fold higher risk of the disease [7,8,9]
Summary
Pancreatic cancer is the fifth leading cause of cancer death with an estimated death of 24,634 patients in Japan in year 2007. Familial aggregation of the disease has implied the possible involvement of genetic factors in pancreatic cancer [6]; approximately 10% of the patients were reported to have family history and individuals having first-degree relatives with pancreatic cancer revealed 2- to 4- fold higher risk of the disease [7,8,9]. These data indicated that genetic factors are likely to play some roles in the development of pancreatic cancer. The advancement of molecular biology improved the understanding of the pathogenesis of pancreatic cancer and characterized a number of genes that mutated in pancreatic cancers, such as somatic mutations in genes INK4A(CDKN2A), TP53, DPC4, BRCA1/2, STK11, APC, KRAS and ATM and PALB2 are found in pancreatic cancers [10,11,12,13,14,15,16,17,18]
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