Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma

Autores
Cotignola, Javier Hernan; Chou, Joanne F.; Roy, Pampa; Mitra, Nandita; Busam, Klaus; Halpern, Allan C.; Orlow, Irene
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Melanoma accounts for the majority of deaths from skin cancer. Women tend to be diagnosed at a younger age and have better survival than men. A tumor-host interaction might be responsible for these gender-specific differences. Recently, a functional single-nucleotide polymorphism in the promoter of the human homolog of mouse double minute 2 (MDM2) gene was characterized: single-nucleotide polymorphism (SNP)309 increases the MDM2 transcription. In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. This study investigated the association between SNP309 (RefSNP accession ID (rs)2279744) and TP53 codon 72 (rs1042522) polymorphisms, with outcome in a hospital-based cohort of 990 patients with melanoma. We assessed whether these polymorphisms were associated with clinicopathological and phenotypic characteristics and whether these SNPs affect the age of onset of the disease, recurrence, and survival. No significant associations were found between the SNPs and survival. However, women carrying the SNP309 GG genotype were less likely to be diagnosed at a younger age: odds ratioadjusted<50 0.52 (0.29-0.92). Our results suggest that women carrying the SNP309 GG genotype might be at lower risk of developing melanoma at a younger age compared with those carrying TG or TT. Further studies are needed to determine whether a nearby functional polymorphism is responsible for this effect in premenopausal women.
Fil: Cotignola, Javier Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Chou, Joanne F.. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Roy, Pampa. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Mitra, Nandita. University of Pennsylvania; Estados Unidos
Fil: Busam, Klaus. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Halpern, Allan C.. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Orlow, Irene. Memorial Sloan Kettering Cancer Center; Estados Unidos
Materia
Melanoma
Polymorphism
Mdm2
Tp53
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/60950
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/60950
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanomaCotignola, Javier HernanChou, Joanne F.Roy, PampaMitra, NanditaBusam, KlausHalpern, Allan C.Orlow, IreneMelanomaPolymorphismMdm2Tp53https://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Melanoma accounts for the majority of deaths from skin cancer. Women tend to be diagnosed at a younger age and have better survival than men. A tumor-host interaction might be responsible for these gender-specific differences. Recently, a functional single-nucleotide polymorphism in the promoter of the human homolog of mouse double minute 2 (MDM2) gene was characterized: single-nucleotide polymorphism (SNP)309 increases the MDM2 transcription. In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. This study investigated the association between SNP309 (RefSNP accession ID (rs)2279744) and TP53 codon 72 (rs1042522) polymorphisms, with outcome in a hospital-based cohort of 990 patients with melanoma. We assessed whether these polymorphisms were associated with clinicopathological and phenotypic characteristics and whether these SNPs affect the age of onset of the disease, recurrence, and survival. No significant associations were found between the SNPs and survival. However, women carrying the SNP309 GG genotype were less likely to be diagnosed at a younger age: odds ratioadjusted<50 0.52 (0.29-0.92). Our results suggest that women carrying the SNP309 GG genotype might be at lower risk of developing melanoma at a younger age compared with those carrying TG or TT. Further studies are needed to determine whether a nearby functional polymorphism is responsible for this effect in premenopausal women.Fil: Cotignola, Javier Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Memorial Sloan Kettering Cancer Center; Estados UnidosFil: Chou, Joanne F.. Memorial Sloan Kettering Cancer Center; Estados UnidosFil: Roy, Pampa. Memorial Sloan Kettering Cancer Center; Estados UnidosFil: Mitra, Nandita. University of Pennsylvania; Estados UnidosFil: Busam, Klaus. Memorial Sloan Kettering Cancer Center; Estados UnidosFil: Halpern, Allan C.. Memorial Sloan Kettering Cancer Center; Estados UnidosFil: Orlow, Irene. Memorial Sloan Kettering Cancer Center; Estados UnidosNature Publishing Group2012-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/60950Cotignola, Javier Hernan; Chou, Joanne F.; Roy, Pampa; Mitra, Nandita; Busam, Klaus; et al.; Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma; Nature Publishing Group; Journal Of Investigative Dermatology; 132; 5; 5-2012; 1471-14780022-202XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1038/jid.2012.15info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0022202X15357511info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:56:50Zoai:ri.conicet.gov.ar:11336/60950instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:56:50.978CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
title Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
spellingShingle Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
Cotignola, Javier Hernan
Melanoma
Polymorphism
Mdm2
Tp53
title_short Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
title_full Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
title_fullStr Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
title_full_unstemmed Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
title_sort Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma
dc.creator.none.fl_str_mv Cotignola, Javier Hernan
Chou, Joanne F.
Roy, Pampa
Mitra, Nandita
Busam, Klaus
Halpern, Allan C.
Orlow, Irene
author Cotignola, Javier Hernan
author_facet Cotignola, Javier Hernan
Chou, Joanne F.
Roy, Pampa
Mitra, Nandita
Busam, Klaus
Halpern, Allan C.
Orlow, Irene
author_role author
author2 Chou, Joanne F.
Roy, Pampa
Mitra, Nandita
Busam, Klaus
Halpern, Allan C.
Orlow, Irene
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Melanoma
Polymorphism
Mdm2
Tp53
topic Melanoma
Polymorphism
Mdm2
Tp53
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Melanoma accounts for the majority of deaths from skin cancer. Women tend to be diagnosed at a younger age and have better survival than men. A tumor-host interaction might be responsible for these gender-specific differences. Recently, a functional single-nucleotide polymorphism in the promoter of the human homolog of mouse double minute 2 (MDM2) gene was characterized: single-nucleotide polymorphism (SNP)309 increases the MDM2 transcription. In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. This study investigated the association between SNP309 (RefSNP accession ID (rs)2279744) and TP53 codon 72 (rs1042522) polymorphisms, with outcome in a hospital-based cohort of 990 patients with melanoma. We assessed whether these polymorphisms were associated with clinicopathological and phenotypic characteristics and whether these SNPs affect the age of onset of the disease, recurrence, and survival. No significant associations were found between the SNPs and survival. However, women carrying the SNP309 GG genotype were less likely to be diagnosed at a younger age: odds ratioadjusted<50 0.52 (0.29-0.92). Our results suggest that women carrying the SNP309 GG genotype might be at lower risk of developing melanoma at a younger age compared with those carrying TG or TT. Further studies are needed to determine whether a nearby functional polymorphism is responsible for this effect in premenopausal women.
Fil: Cotignola, Javier Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Chou, Joanne F.. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Roy, Pampa. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Mitra, Nandita. University of Pennsylvania; Estados Unidos
Fil: Busam, Klaus. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Halpern, Allan C.. Memorial Sloan Kettering Cancer Center; Estados Unidos
Fil: Orlow, Irene. Memorial Sloan Kettering Cancer Center; Estados Unidos
description Melanoma accounts for the majority of deaths from skin cancer. Women tend to be diagnosed at a younger age and have better survival than men. A tumor-host interaction might be responsible for these gender-specific differences. Recently, a functional single-nucleotide polymorphism in the promoter of the human homolog of mouse double minute 2 (MDM2) gene was characterized: single-nucleotide polymorphism (SNP)309 increases the MDM2 transcription. In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. This study investigated the association between SNP309 (RefSNP accession ID (rs)2279744) and TP53 codon 72 (rs1042522) polymorphisms, with outcome in a hospital-based cohort of 990 patients with melanoma. We assessed whether these polymorphisms were associated with clinicopathological and phenotypic characteristics and whether these SNPs affect the age of onset of the disease, recurrence, and survival. No significant associations were found between the SNPs and survival. However, women carrying the SNP309 GG genotype were less likely to be diagnosed at a younger age: odds ratioadjusted<50 0.52 (0.29-0.92). Our results suggest that women carrying the SNP309 GG genotype might be at lower risk of developing melanoma at a younger age compared with those carrying TG or TT. Further studies are needed to determine whether a nearby functional polymorphism is responsible for this effect in premenopausal women.
publishDate 2012
dc.date.none.fl_str_mv 2012-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/60950
Cotignola, Javier Hernan; Chou, Joanne F.; Roy, Pampa; Mitra, Nandita; Busam, Klaus; et al.; Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma; Nature Publishing Group; Journal Of Investigative Dermatology; 132; 5; 5-2012; 1471-1478
0022-202X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/60950
identifier_str_mv Cotignola, Javier Hernan; Chou, Joanne F.; Roy, Pampa; Mitra, Nandita; Busam, Klaus; et al.; Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma; Nature Publishing Group; Journal Of Investigative Dermatology; 132; 5; 5-2012; 1471-1478
0022-202X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1038/jid.2012.15
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0022202X15357511
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269427422199808
score 13.13397

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