Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population
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. Metho...
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doaj-ca7887bb7f3e4db29de028738109187b2021-04-02T11:28:18ZengBMCBMC Medical Genetics1471-23502017-04-011811610.1186/s12881-017-0390-yClinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian populationRenato Assis Machado0Edimilson Martins de Freitas1Sibele Nascimento de Aquino2Daniella Reis B. Martelli3Mário Sérgio Oliveira Swerts4Silvia Regina de Almeida Reis5Darlene Camati Persuhn6Helenara Salvati Bertolossi Moreira7Verônica Oliveira Dias8Ricardo D. Coletta9Hercílio Martelli-Júnior10Department of Oral Diagnosis, Dental School, State University of CampinasStomatology Clinic, Dental School, State University of Montes ClarosSchool of Dentistry, Federal University of Juiz de ForaStomatology Clinic, Dental School, State University of Montes ClarosCenter for Rehabilitation of Craniofacial Anomalies, University of José Rosário VellanoDepartment of Basic Science, Bahiana School of Medicine and Public HealthMolecular Biology Departament, Federal University of ParaíbaDepartment of Physiotherapy, State University of Western ParanáStomatology Clinic, Dental School, State University of Montes ClarosDepartment of Oral Diagnosis, Dental School, State University of CampinasStomatology Clinic, Dental School, State University of Montes ClarosAbstract 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.http://link.springer.com/article/10.1186/s12881-017-0390-yNonsyndromic cleft lip with or without cleft palateBreast cancerGastric cancerAXIN2CDH1 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population BMC Medical Genetics Nonsyndromic cleft lip with or without cleft palate Breast cancer Gastric cancer AXIN2 CDH1 |
author_facet |
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 |
author_sort |
Renato Assis Machado |
title |
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population |
title_short |
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population |
title_full |
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population |
title_fullStr |
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population |
title_full_unstemmed |
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population |
title_sort |
clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the brazilian population |
publisher |
BMC |
series |
BMC Medical Genetics |
issn |
1471-2350 |
publishDate |
2017-04-01 |
description |
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. |
topic |
Nonsyndromic cleft lip with or without cleft palate Breast cancer Gastric cancer AXIN2 CDH1 |
url |
http://link.springer.com/article/10.1186/s12881-017-0390-y |
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