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01.12.2017 | Research article | Ausgabe 1/2017 Open Access

BMC Medical Genetics 1/2017

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

BMC Medical Genetics > Ausgabe 1/2017
Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta, Hercílio Martelli-Júnior
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Electronic supplementary material

The online version of this article (doi:10.​1186/​s12881-017-0390-y) contains supplementary material, which is available to authorized users.



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.
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