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Biomédica
versão impressa ISSN 0120-4157
Resumo
ARISTIZABAL-PACHON, Andrés Felipe e SATIE-TAKAHASHI, Catarina. Effect of genetics, epigenetics and variations in the transcriptional expression of cadherin-E in breast cancer susceptibility. Biomédica [online]. 2016, vol.36, n.4, pp.593-602. ISSN 0120-4157. https://doi.org/10.7705/biomedica.v36i4.3135.
Introduction:
Cadherin-E (CDH1) is an important regulator of epithelial-mesenchymal transition, invasion and metastasis in many carcinomas. However, germinal epimutations and mutations effect in breast cancer susceptibility is not clear.
Objective:
To evaluate rs334558 polymorphism, promoter methylation status and CDH1 expression profile in breast cancer patients.
Materials and methods:
We collected peripheral blood samples from 102 breast cancer patients and 102 healthy subjects. The identification of rs334558 polymorphism was performed using PCR-RFLP, while methylation-specific PCR (MSP) and methylation-sensitive high-resolution melting (MS-HRM) were used to explore CDH1 methylation status; finally, CDH1 transcriptional expression profile was evaluated using RT-qPCR.
Results:
We found no association between rs334558 polymorphism and breast cancer. Aberrant promoter methylation profile was found in breast cancer patients and it was related with early cancer stages. CDH1 down-regulation was significantly associated with metastasis and promoter methylation.
Conclusion:
CDH1 alterations were associated with invasion and metastasis in breast cancer. Our results offer further evidence of CDH1 relevance in breast cancer development and progression.
Palavras-chave : Breast neoplasms/genetics; cadherins; polymerase chain reaction; restriction fragment length polymorphism; reverse transcriptase polymerase chain reaction.