title: Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population.
abstract: Epidemiological studies have indicated a higher incidence of breast and gastric cancer in patients with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and their relatives, which can be based on similar genetic triggers segregated within family with NSCL ± P.
  
  
  
  This multicenter study evaluated the association of 9 single nucleotide polymorphisms (SNP) in AXIN2 and CDH1, representing genes consistently altered in breast and gastric tumors, with NSCL ± P in 223 trios (father, mother and patient with NSCL ± P) by transmission disequilibrium test (TDT).
  
  
  
  Our results showed that the minor A allele of rs7210356 (p = 0.01) and the T-G-G-A-G haplotype formed by rs7591, rs7210356, rs4791171, rs11079571 and rs3923087 SNPs (p = 0.03) in AXIN2 were significantly under-transmitted to patients with NSCL ± P. In CDH1 gene, the C-G-A-A and A-G-A-G haplotypes composed by rs16260, rs9929218, rs7186053 and rs4783573 polymorphisms were respectively over-transmitted (p = 0.01) and under-transmitted (p = 0.008) from parents to the children with NSCL ± P.
  
  
  
  The results suggest that polymorphic variants in AXIN2 and CDH1 may be associated with NSCL ± P susceptibility, and reinforce the putative link between cancer and oral clefts.
authors.affiliation: Department of Oral Diagnosis, Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil. renatoassismachado@yahoo.com.br.
authors.forename: Renato Assis
authors.initials: RA
authors.lastname: Machado
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Edimilson Martins
authors.initials: EM
authors.lastname: de Freitas
authors.affiliation: School of Dentistry, Federal University of Juiz de Fora, Governador Valadares, Minas Gerais, Brazil.
authors.forename: Sibele Nascimento
authors.initials: SN
authors.lastname: de Aquino
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Daniella Reis B
authors.initials: DR
authors.lastname: Martelli
authors.affiliation: Center for Rehabilitation of Craniofacial Anomalies, University of José Rosário Vellano, Alfenas, Minas Gerais, Brazil.
authors.forename: Mário Sérgio Oliveira
authors.initials: MS
authors.lastname: Swerts
authors.affiliation: Department of Basic Science, Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil.
authors.forename: Silvia Regina de Almeida
authors.initials: SR
authors.lastname: Reis
authors.affiliation: Molecular Biology Departament, Federal University of Paraíba, João Pessoa, Paraíba, Brazil.
authors.forename: Darlene Camati
authors.initials: DC
authors.lastname: Persuhn
authors.affiliation: Department of Physiotherapy, State University of Western Paraná, Cascavel, Paraná, Brazil.
authors.forename: Helenara Salvati Bertolossi
authors.initials: HS
authors.lastname: Moreira
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Verônica Oliveira
authors.initials: VO
authors.lastname: Dias
authors.affiliation: Department of Oral Diagnosis, Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil.
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.|Center for Rehabilitation of Craniofacial Anomalies, University of José Rosário Vellano, Alfenas, Minas Gerais, Brazil.
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli-Júnior
mesh_terms: D000483:Alleles; D015703:Antigens, CD; D060466:Axin Protein / Q000235:genetics; D001938:Brazil; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D015820:Cadherins / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D004198:Disease Susceptibility; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C491761:AXIN2 protein, human; D015703:Antigens, CD; D060466:Axin Protein; C513384:CDH1 protein, human; D015820:Cadherins
keywords: AXIN2; Breast cancer; CDH1; Gastric cancer; Nonsyndromic cleft lip with or without cleft palate