Aim: Individuals differ in their inherited tendency to develop cancer. This has been suggested to be due to genetic variations between individuals. Single-nucleotide polymorphisms (SNPs) are the most common form of genetic variations found in the human population. The aim of this study was to investigate the association between 10 SNPs in genes involved in cell cycle control and DNA repair (p21 C31A, p53 G72C, ATM G1853A, XRCC1 G399A, XRCC3 C241T, Ku80 A2790G, DNA Ligase IV C9T, DNA-PKcs A3434G, TGF-beta T10C, MDM2 promoter T309G) and the risk to develop head and neck cancer. Materials and Methods: A cohort of 407 individuals (156 cancer patients and 251 controls) was included. DNA was extracted from peripheral blood. SNPs were genotyped by direct sequencing. Results: Data showed significant allelic associations for p21 C31A ( p = 0.04; odds ratio [OR] = 1.44; confidence interval [CI]: 1.02-2.03), Ku80 A2790G ( p = 0.04; OR = 1.5; CI: 1.01-2.23), and MDM2 T309G ( p = 0.0003; OR = 0.58; CI: 0.43-0.78) and head and neck cancer occurrence. Both cancer cases and controls were in Hardy-Weinberg equilibrium. Conclusion: SNPs can be associated with head and neck cancer in the Saudi population. The p21 C31A, Ku80 A2790G, and MDM2 T309G SNPs could be used as genetic biomarkers to screen individuals at high cancer risk.
Due to individual variations in radiosensitivity, biomarkers are needed to tailor radiation treatment to cancer patients. Since single nucleotide polymorphisms (SNPs) are frequent in human, we hypothesized that SNPs in genes that mitigate the radiation response are associated with radiotoxicity, in particular late complications to radiotherapy and could be used as genetic biomarkers for radiation sensitivity. A total of 155 patients with nasopharyngeal cancer were included in the study. Normal tissue fibrosis was scored using RTOG/EORTC grading system. Eleven candidate genes (ATM, XRCC1, XRCC3, XRCC4, XRCC5, PRKDC, LIG4, TP53, HDM2, CDKN1A, TGFB1) were selected for their presumed influence on radiosensitivity. Forty-five SNPs (12 primary and 33 neighboring) were genotyped by direct sequencing of genomic DNA. Patients with severe fibrosis (cases, G3–4, n = 48) were compared to controls (G0–2, n = 107). Results showed statistically significant (P < 0.05) association with radiation complications for six SNPs (ATM G/A rs1801516, HDM2 promoter T/G rs2279744 and T/A rs1196333, XRCC1 G/A rs25487, XRCC5 T/C rs1051677 and TGFB1 C/T rs1800469). We conclude that these six SNPs are candidate genetic biomarkers for radiosensitivity in our patients that have cumulative effects as patients with severe fibrosis harbored significantly higher number of risk alleles than the controls (P < 0.001). Larger cohort, independent replication of these findings and genome-wide association studies are required to confirm these results in order for SNPs to be used as biomarkers to individualize radiotherapy on genetic basis.
One of the well-known complications of immunosuppression is herpes simplex esophagitis and it is rarely found in immunocompetent patients. We present a case of a 75-year-old female known case of diabetes mellitus, hypertension and dyslipidemia with two-month history of dysphagia and odynophagia to solid mainly and cough tinged with blood. On esophagogastroduodenoscopy there was right side of oropharynx ulcer, edema and focal erythema with compression on the esophageal entrance. Biopsy confirmed esophagitis and findings characteristic of herpes simplex virus infection. After the diagnosis was made, the patient was treated with prednisone for 10 days and famciclovir for 14 days and showed significant improvement in a period of nearly 2 weeks. We recommend antiviral treatment even for immunocompetent patients for the clear acceleration of the recovery time and prevention of possible complications.
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