ABSTRACT: Colorectal cancer contributes heavily to cancer morbidity and mortality worldwide. Numerous therapies are currently in use, including monoclonal antibodies against cellular components involved in tumorigenesis such as epidermal growth factor receptors (EGFRs). Studies showed the polymorphism [R521K] GàA in the EGFR gene to be involved in both colorectal cancer susceptibility and clinical response to therapeutics (e.g., Cetuximab).
We aimed at uncovering allele frequencies of this polymorphism among Syrian colorectal cancer patients and healthy individuals.
Forty-seven patients with colorectal cancer were included in a case-control study along with 48 healthy subjects, all native Syrians. Individuals were genotyped using PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) and results were statistically analyzed to elucidate significant differences between the two groups.
Allele frequencies were 40.4% (G/G), 57.4% (G/A) and 2.1% (A/A) in colorectal cancer patients and 41.6% (G/G), 43.7% (G/A) and 14.5% (A/A) in healthy subjects. The A/A genotype was significantly lower in colorectal cancer patients than in the control group.
Homozygosity for the A allele is linked to reducing the risk of developing colorectal cancer in Syrian patients. The lower prevalence of (A/A) locally may predict sub-optimal rates of clinical response to Cetuximab compared with populations with higher frequencies of the A allele. Larger scale investigations are needed for a stronger conclusion.
North American journal of medical sciences. 03/2013; 5(3):202-6.
ABSTRACT: BACKGROUND: Catechol-O-methyltransferase (COMT) inactivates catechol estrogens by methylation and thus may play a protective role against mutations induced by estrogen metabolites. In this study we investigated the relationship between the Vall58Met polymorphism in the COMT gene and breast cancer risk in a population-based case control study in Syria. METHODS: We examined 135 breast cancer patients and 107 healthy controls in North Syria to determine the association between the functional genetic Val158Met polymorphism in the COMT gene and female breast cancer risk. RESULTS: There was no significant overall association between the COMT genotype and individual susceptibility to breast cancer. CONCLUSIONS: Our data suggest that there may be no overall association between the COMT genotype and breast cancer.
Breast Cancer 11/2011; · 1.36 Impact Factor
ABSTRACT: The Val158Met single nucleotide polymorphism of the COMT gene has been implicated in the aetiology of schizophrenia, although results from different populations have been conflicting.
The aim of the present study was to investigate possible association between schizophrenia and Val158Met in a novel Arab population from Syria.
71 unrelated schizophrenic subjects (45 men) and 102 unrelated healthy controls (62 men) were recruited to take part in this case- control study. The Val158Met of the COMT gene was genotyped for patients and controls, using a new optimized PCR-RFLP method.
the results demonstrated that there is no statistically significant difference between the two groups.
This study does not support that Val158Met has an influence on susceptibility for schizophrenia in this population.
North American journal of medical sciences. 04/2011; 3(4):176-8.