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Polymorphic variations may affect the rate of gene transcription, the stability of the mRNA, or the quantity and activity of the resulting protein. In this study we evaluated the association between the interleukin-1B C-31T, catechol-O-methyltransferase Val158Met, and thymidylate synthase (TS) 1494del6 polymorphisms and breast cancer. Each genetic polymorphism was investigated by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. No significant difference in either the genotype distribution or the allelic frequencies of the IL-1B and COMT gene polymorphisms was observed between the patient and control groups. For the TS 1494del6 polymorphism a significant difference was observed for both the genotypes (P=0.01) and the allele frequencies (P=0.0097), indicating a decreased risk associated with the variant allele. Our data do not provide evidence for an association between the polymorphic variants of the IL-1B and COMT genes and breast cancer risk. On the other hand, the TS 1494del6 polymorphism is associated with a significantly lower risk of breast cancer and may be a potential genetic marker., (2007 Wiley-Liss, Inc.)

Background: Folate deficiency is implicated in cancer development. Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene can modulate the effect of folate. In this case-controlled study, a possible effect of the common MTHFR C677T (ala-->val) polymorphism on breast cancer susceptibility in Turkish patients was investigated., Materials and Methods: Polymorphism analysis was performed by melting curve analysis., Results: The variant allele valine (677T) was more frequent among the patients (30.1%) than in controls (23.9%). This difference was weakly significant (p = 0.046; OR = 1.37) and due to a significantly higher frequency of the valine homozygotes (677TT) among the patients (12.1% vs. 5.4%; p = 0.013, OR = 2.5). Among the patients diagnosed at more than 40 years of age, a more pronounced association of the valine homozygotes with breast cancer risk was observed (p = 0.009; OR = 3.3)., Conclusion: Homozygosity for the low-activity C677T genotype (TT) may represent a genetic determinant increasing breast cancer risk.

CD44 is a cell surface glycoprotein expressed on different cell types that functions in lymphocyte activation and homing, extracellular matrix adhesion and cellular migration. CD44 is encoded by a single gene composed of at least 20 exons. The standard CD44 protein (CD44S or CD44H) is the hematopoietic form of CD44 in lymphoid cells. Variant isoforms (designated from v1 to v10) are formed by addition of new exons to the extracellular domain. High levels of CD44v6 expression has been observed in some tumors and are associated with metastatic spread. The aim of the present study was to investigate and evaluate expression of the CD44v6 and v6-containing variants as a possible marker in chronic myeloid leukemia and lymphoma by reverse transcription-polymerase chain reaction. CD44 exon v6 was detected in all patients and all individuals in the control group. CD44v6-v10 mRNA was observed in 25 patients but in none of the subjects in the control group. CD44v6/v9-10, CD44v6-v7, CD44v6/v10 transcripts were detected in 11, 6, and 2 patients, respectively. CD44v6-7/v9-10 transcripts were not observed in either the patients or the healthy individuals. We conclude that CD44v6-v10 expression may be associated with hematologic malignancies.