Novel Mutations of the PARP-1 Gene Associated with Colorectal Cancer in the Saudi Population

作者：Alshammari Atika Hazzaa^*; Shalaby M**** Aly; Alanazi Mohammad Saud; Saeed Hesham Mahmoud; Azzam Nahla Ali

来源：Asian Pacific Journal of Cancer Prevention, 2014, 15(8): 3667-3673.

DOI：10.7314/APJCP.2014.15.8.3667

• PARP-1
• colorectal cancer
• DNA repair enzyme
• single nucleotide polymorphism
• Saudi Arabia

Background: colorectal cancer (CRC) is the third most common type of cancers and the fourth leading cause of death worldwide. In Saudi Arabia, CRC accounts for 8.5% of all tumors; it ranks first among all cancers in males and third among females. The aim of this study was to link between different PARP-1 mutations and risk of CRC in Saudi population and to determine common variants of PARP-1 in Saudi CRC patients and normal individuals. Materials and Methods: DNA samples were isolated from fifty CRC patients and from a comparable number of control subjects then sequenced to detect different variations present in exons 3, 17, and 21 of the PARP-1 gene. Results and Conclusions: When comparing the genotype and allele frequencies of all even the most common SNP in PARP-1 gene (Val762Ala). However, two novel alterations in exon 21 were found to be associated with increased risk of CRC. Our results suggest that PARP-1 Lys933Asn and Lys945Asn alteration could be associated with increased risk of CRC in the Saudi population.

• 出版日期2014