Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/58830 |
Resumo: | Background: TP53 is one of major tumour suppressor genes being essential in preservation of genome integrity. Two very common polymorphisms have been demonstrated to contribute to cancer susceptibility and tumour behaviour. The purpose of this study was to evaluate the role of Arg72Pro and PIN3 Ins16bp polymorphisms in TP53 gene as genetic susceptibility and predictive markers to breast cancer.Methods: We analysed DNA samples from 264 breast cancer patients and 440 controls, for TP53 Arg72Pro and PIN3 Ins16bp polymorphisms using PCR-RFLP.Results: We observed that women with A2A2 genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60 - 12.0; p=0.004; OR=3.88, 95% CI 1.18 - 12.8; p=0.026, respectively). In haplotype analysis, statistically significant differences were found between TP53 Arg-A2 haplotype frequencies and familial breast cancer cases and the respective control group ( OR=2.10, 95% CI 1.08 - 4.06; p=0.028). Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Conclusion: Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases. |
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Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancerAdultAgedBreast NeoplasmsCase-Control StudiesCodonDNA, NeoplasmFemaleGenetic Predisposition to DiseaseHumansIntronsLymphatic MetastasisMiddle AgedPolymorphism, GeneticGenes, p53Science & TechnologyBackground: TP53 is one of major tumour suppressor genes being essential in preservation of genome integrity. Two very common polymorphisms have been demonstrated to contribute to cancer susceptibility and tumour behaviour. The purpose of this study was to evaluate the role of Arg72Pro and PIN3 Ins16bp polymorphisms in TP53 gene as genetic susceptibility and predictive markers to breast cancer.Methods: We analysed DNA samples from 264 breast cancer patients and 440 controls, for TP53 Arg72Pro and PIN3 Ins16bp polymorphisms using PCR-RFLP.Results: We observed that women with A2A2 genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60 - 12.0; p=0.004; OR=3.88, 95% CI 1.18 - 12.8; p=0.026, respectively). In haplotype analysis, statistically significant differences were found between TP53 Arg-A2 haplotype frequencies and familial breast cancer cases and the respective control group ( OR=2.10, 95% CI 1.08 - 4.06; p=0.028). Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Conclusion: Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.The authors would like to thank to Oncology and Surgical Department from S. João Hospital at Porto, and the Pathology Departments of the different Hospitals involved. We would like to thank to Imunohemotherapy Department of S. Marcos Hospital at Braga and to Clínica Laboratorial Dr. Edgar Botelho Moniz for their helpful assistance in the management of controls. We gratefully acknowledge FLAD (Fundação Luso-Americana para o Desenvolvimento), the Minister of Health of Portugal (Comissão de Fomento da Investigacão em Cuidados de Saúde: CFICS- 226/01), Astra Zeneca Foundation and Calouste Gulbenkian Foundation by financial funding of this work. We also gratefully acknowledge the Minister of Science and Superior Education-FCT (Fundação para a Ciência e Tecnologia: SFRH/BD/9758/2003) by financial support of individual grant for Doctoral degree of the first author.info:eu-repo/semantics/publishedVersionBioMed Central (BMC)Universidade do MinhoCosta, SandraPinto, DanielaPereira, DeolindaRodrigues, HelenaCameselle-Teijeiro, JorgeMedeiros, RuiSchmitt, Fernando2008-01-292008-01-29T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/58830eng1471-240710.1186/1471-2407-8-3218230179info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:30:00Zoai:repositorium.sdum.uminho.pt:1822/58830Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:25:06.624708Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
title |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
spellingShingle |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer Costa, Sandra Adult Aged Breast Neoplasms Case-Control Studies Codon DNA, Neoplasm Female Genetic Predisposition to Disease Humans Introns Lymphatic Metastasis Middle Aged Polymorphism, Genetic Genes, p53 Science & Technology |
title_short |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
title_full |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
title_fullStr |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
title_full_unstemmed |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
title_sort |
Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer |
author |
Costa, Sandra |
author_facet |
Costa, Sandra Pinto, Daniela Pereira, Deolinda Rodrigues, Helena Cameselle-Teijeiro, Jorge Medeiros, Rui Schmitt, Fernando |
author_role |
author |
author2 |
Pinto, Daniela Pereira, Deolinda Rodrigues, Helena Cameselle-Teijeiro, Jorge Medeiros, Rui Schmitt, Fernando |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Costa, Sandra Pinto, Daniela Pereira, Deolinda Rodrigues, Helena Cameselle-Teijeiro, Jorge Medeiros, Rui Schmitt, Fernando |
dc.subject.por.fl_str_mv |
Adult Aged Breast Neoplasms Case-Control Studies Codon DNA, Neoplasm Female Genetic Predisposition to Disease Humans Introns Lymphatic Metastasis Middle Aged Polymorphism, Genetic Genes, p53 Science & Technology |
topic |
Adult Aged Breast Neoplasms Case-Control Studies Codon DNA, Neoplasm Female Genetic Predisposition to Disease Humans Introns Lymphatic Metastasis Middle Aged Polymorphism, Genetic Genes, p53 Science & Technology |
description |
Background: TP53 is one of major tumour suppressor genes being essential in preservation of genome integrity. Two very common polymorphisms have been demonstrated to contribute to cancer susceptibility and tumour behaviour. The purpose of this study was to evaluate the role of Arg72Pro and PIN3 Ins16bp polymorphisms in TP53 gene as genetic susceptibility and predictive markers to breast cancer.Methods: We analysed DNA samples from 264 breast cancer patients and 440 controls, for TP53 Arg72Pro and PIN3 Ins16bp polymorphisms using PCR-RFLP.Results: We observed that women with A2A2 genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60 - 12.0; p=0.004; OR=3.88, 95% CI 1.18 - 12.8; p=0.026, respectively). In haplotype analysis, statistically significant differences were found between TP53 Arg-A2 haplotype frequencies and familial breast cancer cases and the respective control group ( OR=2.10, 95% CI 1.08 - 4.06; p=0.028). Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Conclusion: Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-01-29 2008-01-29T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/58830 |
url |
http://hdl.handle.net/1822/58830 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1471-2407 10.1186/1471-2407-8-32 18230179 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BioMed Central (BMC) |
publisher.none.fl_str_mv |
BioMed Central (BMC) |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799132733785505792 |