Abstract
BackgroundE-cadherin is a major component of adherens junctions that regulates cell shape and maintains tissue integrity. A complete loss or any decrease in cell surface expression of E-cadherin will interfere with the cell-to-cell junctions’ strength and leads to cell detachment and escape from the primary tumor site. In this prospective study, three functional single nucleotide polymorphisms (−347G/GA, rs5030625; −160C/A, rs16260; +54C/T, rs1801026), were found to modulate E-cadherin expression.Methods577 DNA samples from breast cancer (BC) cases were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP).ResultsWe detected no significant correlations between each polymorphism and the clinical parameters of the patients whereas the GACC haplotype was significantly associated with low SBR grading. Overall survival analysis showed that both −347G/G and +54C/C wild (wt) genotypes had a significantly worse effect compared to the other genotypes (non-wt). Moreover, carrying simultaneously both the −347 and +54 wt genotypes confers a significantly higher risk of death. However, with metastatic recurrence, the death-rate was null in patients carrying the non-wt genotypes, and attained 37% in those carrying the wt genotype. A multivariate analysis showed that these two polymorphisms are independent prognostic factors for overall survival in BC patients.ConclusionsOur results support the fact that E-cadherin genetic variants control disease severity and progression and could be a marker of disease outcome. These findings could be useful in selecting patients that should be monitored differently.
Highlights
E-cadherin is a major component of adherens junctions that regulates cell shape and maintains tissue integrity
cadherin1 gene (CDH1) single nucleotide polymorphisms (SNP) and their association with clinicopathological characteristics of breast cancer patients All DNA samples were successfully genotyped for the three CHD1 SNPs (577 patients and 300 controls)
We investigated the association between CHD1 SNP genotype distributions and clinicopathological characteristics at diagnosis of patients with breast cancer
Summary
E-cadherin is a major component of adherens junctions that regulates cell shape and maintains tissue integrity. A complete loss or any decrease in cell surface expression of E-cadherin will interfere with the cell-to-cell junctions’ strength and leads to cell detachment and escape from the primary tumor site In this prospective study, three functional single nucleotide polymorphisms (−347G/GA, rs5030625; −160C/A, rs16260; +54C/T, rs1801026), were found to modulate E-cadherin expression. A complete loss of E-cadherin expression/function or any decrease in cell surface expression, caused by mutation of the CDH1 gene, or other mechanisms that decrease E-cadherin expression will interfere with the cell-to-cell junctions’ strength and leads, inter alia, to cell detachment and escape from the primary tumor site. In regards to breast cancer, few investigations have been carried out on the association between CDH1 polymorphisms and cancer severity or progression This is why in this prospective cohort study conducted on 577 sporadic BC cases, three functional SNPs from of the E-cadherin gene (CDH1) were genotyped, and the possible prognostic values of these genetic variations were investigated
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