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Polymorphisms in the MUC16 Gene: Potential Implication in Epithelial Ovarian Cancer.

23:40 EDT 21st May 2013 | BioPortfolio

Summary of "Polymorphisms in the MUC16 Gene: Potential Implication in Epithelial Ovarian Cancer."

MUC16 plays an important role in epithelial ovarian cancer. In this paper, we studied the association between two tags SNPs of MUC16 and the risk of epithelial ovarian cancer. We aimed also to test the association between these tags SNPs and elevated level of the protein CA125. We analyzed a collection of 117 cases. Forty-one samples of patients with epithelial ovarian cancer and 76 samples from Tunisian volunteers were genotyped for two synonymous coding tags SNPs of the MUC16 gene (rs1596797, A/C and rs2547065, C/G) using polymerase chain reaction and sequencing. For the rs1596797 SNP, there was no significant difference in genotype distribution, a rare variation observed in only one patient. For the polymorphism rs2547065, mean CA125 levels were 24 and 78 UI/ml in patients with GG and GC genotypes versus 230 UI/ml in patients with CC genotype (P = 0.36). Compared to the C/C genotype, the 'G' allele (C/G+G/G genotypes) did not significantly modified the risk of developping epithelial ovarian cancer (OR = 0.43; 95% CI). As for the polymorphism rs1596797, compared to the C/C genotype, the 'A' allele (C/A+A/A genotypes) did not significantly modified the risk of developping epithelial ovarian cancer (OR = 881.7; 95% CI). MUC16 gene polymorphisms selected in this study are neither involved in genetic predisposition to epithelial ovarian cancer nor associated with CA125 level.

Affiliation

Laboratory of Biochemistry-CHU Farhat Hached, Sousse, 4000, Tunisia, bouanenehouda2@yahoo.fr.

Journal Details

This article was published in the following journal.

Name: Pathology oncology research : POR
ISSN: 1532-2807
Pages:

Links

Medical and Biotech [MESH] Definitions

Brca2 Protein

A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)

Genes, Brca1

A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 17 at locus 17q21. Mutations of this gene are associated with the formation of familial breast and ovarian cancer. It encodes a large, nuclear protein that is a component of DNA repair pathways.

Genes, Brca2

A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)

Topotecan

An antineoplastic agent used to treat ovarian cancer. It works by inhibiting DNA TOPOISOMERASES, TYPE I.

Ovarian Failure, Premature

Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.

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