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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.

SUBMITTER: Machado RA 

PROVIDER: S-EPMC5379638 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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<h4>Background</h4>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.<h4>Methods</h4>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   ...[more]

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