Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population.

Autor: Machado RA; Department of Oral Diagnosis, Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil. renatoassismachado@yahoo.com.br., de Freitas EM; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., de Aquino SN; School of Dentistry, Federal University of Juiz de Fora, Governador Valadares, Minas Gerais, Brazil., Martelli DR; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., Swerts MS; Center for Rehabilitation of Craniofacial Anomalies, University of José Rosário Vellano, Alfenas, Minas Gerais, Brazil., Reis SR; Department of Basic Science, Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil., Persuhn DC; Molecular Biology Departament, Federal University of Paraíba, João Pessoa, Paraíba, Brazil., Moreira HS; Department of Physiotherapy, State University of Western Paraná, Cascavel, Paraná, Brazil., Dias VO; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., Coletta RD; Department of Oral Diagnosis, Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil., Martelli-Júnior H; 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.
Jazyk: angličtina
Zdroj: BMC medical genetics [BMC Med Genet] 2017 Apr 04; Vol. 18 (1), pp. 39. Date of Electronic Publication: 2017 Apr 04.
DOI: 10.1186/s12881-017-0390-y
Abstrakt: Background: 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.
Methods: 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).
Results: 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.
Conclusions: 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.
Databáze: MEDLINE
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