CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.

The proposed role of CDH1 (E-cadherin gene) methylation as a mechanism of gene inactivation in invasive lobular carcinoma (ILC) remains inconclusive. For many years, CDH1 promoter hypermethylation has been regarded as a mechanism for gene inactivation in ILC. However, this assumption has primarily r...

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Autores: Horvathova Kajabova, Viera, Pérez‑Mies, Belén, Carretero‑Barrio, Irene, Caniego‑Casas, Tamara, Sarrió, David, Moreno‑Bueno, Gema, Gión, María, Perez‑García, José, Cortés, Javier, Smolkova, Bozena, Palacios, José, González-Martínez, Silvia|||/items/a6747706-be4e-48c8-b8a5-32737469f700
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad Alfonso X el Sabio
Repositorio:Repositorio Institucional de la Universidad Alfonso X el Sabio
Idioma:inglés
OAI Identifier:oai:archive.uax.com:20.500.12080/54965
Acceso en línea:https://hdl.handle.net/20.500.12080/54965
Access Level:acceso abierto
Palabra clave:Cáncer de mama
Carcinomas lobulillares
CDH1
Metilación del ADN
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spelling CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.Horvathova Kajabova, VieraPérez‑Mies, BelénCarretero‑Barrio, IreneCaniego‑Casas, TamaraSarrió, DavidMoreno‑Bueno, GemaGión, MaríaPerez‑García, JoséCortés, JavierSmolkova, BozenaPalacios, JoséGonzález-Martínez, Silvia|||/items/a6747706-be4e-48c8-b8a5-32737469f700Cáncer de mamaCarcinomas lobulillaresCDH1Metilación del ADNThe proposed role of CDH1 (E-cadherin gene) methylation as a mechanism of gene inactivation in invasive lobular carcinoma (ILC) remains inconclusive. For many years, CDH1 promoter hypermethylation has been regarded as a mechanism for gene inactivation in ILC. However, this assumption has primarily relied on non-quantitative assays, which have reported CDH1methylation frequencies ranging from 26 to 93% at CpG sites within the island region. Few studies employing quantitative methods and covering CpG island shores, regions of relatively low CpG density situated proximal to conventional promoter CpGs, have been conducted, revealing lower percentages of methylation ranging from 0 to 51%. Therefore, using the quanti tative pyrosequencing method, we examined CDH1 methylation in the island region and shores in E-cadherin deficient ILC cases (15 with CDH1 mutation and 22 non-mutated), 19 cases of invasive breast carcinomas non-special type (IBC-NSTs), and five cases of usual ductal hyperplasia (UDH). Our analysis revealed CDH1 methylation frequencies ranging from 3 to 64%, with no significant increase in ethylation levels in any group of ILCs (median = 12%) compared to IBC-NST (median = 15%). In addition, considering the poorly studied association between the number of tumor-infiltrating lymphocytes (TILs) and CDH1 methylation in breast cancer, we undertook a thorough analysis within our dataset. Our findings revealed a positive correlation between CDH1 methylation and the presence of TILs (r = 0.5; p-value < 0.05), shedding light on an aspect of breast cancer biology warranting further investigation. These findings challenge CDH1 methylation as a CDH1 inactivation mechanism in ILC and highlight TILs as a potential confounding factor in gene methylation.Springer ScienceUAX -Campus MadridUAX Archive20242024-01-0120242024-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.12080/54965reponame:Repositorio Institucional de la Universidad Alfonso X el Sabioinstname:Universidad Alfonso X el SabioInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:archive.uax.com:20.500.12080/549652026-05-28T12:40:21Z
dc.title.none.fl_str_mv CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
title CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
spellingShingle CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
Horvathova Kajabova, Viera
Cáncer de mama
Carcinomas lobulillares
CDH1
Metilación del ADN
title_short CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
title_full CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
title_fullStr CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
title_full_unstemmed CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
title_sort CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.
dc.creator.none.fl_str_mv Horvathova Kajabova, Viera
Pérez‑Mies, Belén
Carretero‑Barrio, Irene
Caniego‑Casas, Tamara
Sarrió, David
Moreno‑Bueno, Gema
Gión, María
Perez‑García, José
Cortés, Javier
Smolkova, Bozena
Palacios, José
González-Martínez, Silvia|||/items/a6747706-be4e-48c8-b8a5-32737469f700
author Horvathova Kajabova, Viera
author_facet Horvathova Kajabova, Viera
Pérez‑Mies, Belén
Carretero‑Barrio, Irene
Caniego‑Casas, Tamara
Sarrió, David
Moreno‑Bueno, Gema
Gión, María
Perez‑García, José
Cortés, Javier
Smolkova, Bozena
Palacios, José
González-Martínez, Silvia|||/items/a6747706-be4e-48c8-b8a5-32737469f700
author_role author
author2 Pérez‑Mies, Belén
Carretero‑Barrio, Irene
Caniego‑Casas, Tamara
Sarrió, David
Moreno‑Bueno, Gema
Gión, María
Perez‑García, José
Cortés, Javier
Smolkova, Bozena
Palacios, José
González-Martínez, Silvia|||/items/a6747706-be4e-48c8-b8a5-32737469f700
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv UAX -Campus Madrid
UAX Archive
dc.subject.none.fl_str_mv Cáncer de mama
Carcinomas lobulillares
CDH1
Metilación del ADN
topic Cáncer de mama
Carcinomas lobulillares
CDH1
Metilación del ADN
description The proposed role of CDH1 (E-cadherin gene) methylation as a mechanism of gene inactivation in invasive lobular carcinoma (ILC) remains inconclusive. For many years, CDH1 promoter hypermethylation has been regarded as a mechanism for gene inactivation in ILC. However, this assumption has primarily relied on non-quantitative assays, which have reported CDH1methylation frequencies ranging from 26 to 93% at CpG sites within the island region. Few studies employing quantitative methods and covering CpG island shores, regions of relatively low CpG density situated proximal to conventional promoter CpGs, have been conducted, revealing lower percentages of methylation ranging from 0 to 51%. Therefore, using the quanti tative pyrosequencing method, we examined CDH1 methylation in the island region and shores in E-cadherin deficient ILC cases (15 with CDH1 mutation and 22 non-mutated), 19 cases of invasive breast carcinomas non-special type (IBC-NSTs), and five cases of usual ductal hyperplasia (UDH). Our analysis revealed CDH1 methylation frequencies ranging from 3 to 64%, with no significant increase in ethylation levels in any group of ILCs (median = 12%) compared to IBC-NST (median = 15%). In addition, considering the poorly studied association between the number of tumor-infiltrating lymphocytes (TILs) and CDH1 methylation in breast cancer, we undertook a thorough analysis within our dataset. Our findings revealed a positive correlation between CDH1 methylation and the presence of TILs (r = 0.5; p-value < 0.05), shedding light on an aspect of breast cancer biology warranting further investigation. These findings challenge CDH1 methylation as a CDH1 inactivation mechanism in ILC and highlight TILs as a potential confounding factor in gene methylation.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024-01-01
2024
2024-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.12080/54965
url https://hdl.handle.net/20.500.12080/54965
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Science
publisher.none.fl_str_mv Springer Science
dc.source.none.fl_str_mv reponame:Repositorio Institucional de la Universidad Alfonso X el Sabio
instname:Universidad Alfonso X el Sabio
instname_str Universidad Alfonso X el Sabio
reponame_str Repositorio Institucional de la Universidad Alfonso X el Sabio
collection Repositorio Institucional de la Universidad Alfonso X el Sabio
repository.name.fl_str_mv
repository.mail.fl_str_mv
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