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

• Published in: Asian Pacific journal of cancer prevention : APJCP Vol. 15; no. 8; pp. 3667 - 3673
• Main Authors: Alshammari, Atika Hazzaa, Shalaby, Manal Aly, Alanazi, Mohammad Saud, Saeed, Hesham Mahmoud
• Format: Journal Article
• Language: English
• Published: Thailand 01.01.2014
• Subjects: Carcinoma - genetics; Case-Control Studies; Colorectal Neoplasms - genetics; Exons - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Poly (ADP-Ribose) Polymerase-1; Poly(ADP-ribose) Polymerases - genetics; Polymorphism, Single Nucleotide; Saudi Arabia
• ISSN: 1513-7368; 2476-762X
• DOI: 10.7314/APJCP.2014.15.8.3667

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. 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. When comparing the genotype and allele frequencies of all detected SNPs in CRC patients with those in controls, we found none were significantly different for all variants 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. The variants identified as (1) Lys933Asn [p-value 0.0318] and (2) Lys945Asn [p-value 0.0257]. Our results suggest that PARP-1 Lys933Asn and Lys945Asn alterations could be associated with increased risk of CRC in the Saudi population.