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. 2017 Apr 4;18(1):39.
doi: 10.1186/s12881-017-0390-y.

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

Renato Assis Machado  1 , Edimilson Martins de Freitas  2 , Sibele Nascimento de Aquino  3 , Daniella Reis B Martelli  2 , Mário Sérgio Oliveira Swerts  4 , Silvia Regina de Almeida Reis  5 , Darlene Camati Persuhn  6 , Helenara Salvati Bertolossi Moreira  7 , Verônica Oliveira Dias  2 , Ricardo D Coletta  8 , Hercílio Martelli-Júnior  2   4
Affiliations

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

Renato Assis Machado et al. BMC Med Genet. .

Abstract

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.

Keywords: AXIN2; Breast cancer; CDH1; Gastric cancer; Nonsyndromic cleft lip with or without cleft palate.

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