title: [Effect of genetics, epigenetics and variations in the transcriptional expression of cadherin-E in breast cancer susceptibility].
abstract: BACKGROUND
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidad de São Paulo, Ribeirão Preto, São Paulo, Brasil. sagipe07@gmail.com.
authors.forename: Andrés Felipe
authors.initials: AF
authors.lastname: Aristizábal-Pachón
authors.forename: Catarina Satie
authors.initials: CS
authors.lastname: Takahashi
mesh_terms: D000368:Aged; D015703:Antigens, CD; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D015820:Cadherins / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D018270:Carcinoma, Ductal, Breast / Q000453:epidemiology / Q000235:genetics; D019175:DNA Methylation; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D044127:Epigenesis, Genetic; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000096:biosynthesis; D012334:RNA, Neoplasm / Q000235:genetics; D017584:Reproductive History; D012307:Risk Factors; D014158:Transcription, Genetic
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D012333:RNA, Messenger; D012334:RNA, Neoplasm
keywords: Breast neoplasms/genetics; cadherins; polymerase chain reaction; restriction fragment length polymorphism; reverse transcriptase polymerase chain reaction