Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study

Abstract Pregnancy-associated breast cancer (PABC), diagnosed during or shortly after pregnancy, is a challenging entity with an aggressive biology and poor prognosis. This study analyzed the clinicopathological characteristics and gene expression profile of 33 PABC and 26 non-PABC patients using th...

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Main Authors: Regina Peña-Enríquez, Begoña Bermejo, Marina Pollán, Alejandra Díaz-Chacón, Yolanda Jerez Gilarranz, José J Ponce Lorenzo, Antonio Fernández Aramburo, Blanca Cantos Sánchez de Ibargüen, Ana Santaballa Bertrán, Elena Galve-Calvo, Álvaro Jiménez-Arranz, Yolanda Fernández, María Eva Pérez, Susana De La Cruz, Antonio Anton-Torres, Fernando Moreno, María Jesús Vidal-Losada, María Helena López-Ceballos, Isabel Blancas, María José Echarri, Raúl Rincón, Rosalía Caballero, Ángel Guerrero-Zotano, Silvia Guil-Luna, Juan de la Haba-Rodríguez
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:npj Breast Cancer
Online Access:https://doi.org/10.1038/s41523-025-00718-x
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author Regina Peña-Enríquez
Begoña Bermejo
Marina Pollán
Alejandra Díaz-Chacón
Yolanda Jerez Gilarranz
José J Ponce Lorenzo
Antonio Fernández Aramburo
Blanca Cantos Sánchez de Ibargüen
Ana Santaballa Bertrán
Elena Galve-Calvo
Álvaro Jiménez-Arranz
Yolanda Fernández
María Eva Pérez
Susana De La Cruz
Antonio Anton-Torres
Fernando Moreno
María Jesús Vidal-Losada
María Helena López-Ceballos
Isabel Blancas
María José Echarri
Raúl Rincón
Rosalía Caballero
Ángel Guerrero-Zotano
Silvia Guil-Luna
Juan de la Haba-Rodríguez
author_facet Regina Peña-Enríquez
Begoña Bermejo
Marina Pollán
Alejandra Díaz-Chacón
Yolanda Jerez Gilarranz
José J Ponce Lorenzo
Antonio Fernández Aramburo
Blanca Cantos Sánchez de Ibargüen
Ana Santaballa Bertrán
Elena Galve-Calvo
Álvaro Jiménez-Arranz
Yolanda Fernández
María Eva Pérez
Susana De La Cruz
Antonio Anton-Torres
Fernando Moreno
María Jesús Vidal-Losada
María Helena López-Ceballos
Isabel Blancas
María José Echarri
Raúl Rincón
Rosalía Caballero
Ángel Guerrero-Zotano
Silvia Guil-Luna
Juan de la Haba-Rodríguez
author_sort Regina Peña-Enríquez
collection DOAJ
description Abstract Pregnancy-associated breast cancer (PABC), diagnosed during or shortly after pregnancy, is a challenging entity with an aggressive biology and poor prognosis. This study analyzed the clinicopathological characteristics and gene expression profile of 33 PABC and 26 non-PABC patients using the nCounter BC360 Panel (NanoString). Notably, PABC showed a higher prevalence of basal-like tumors than non-PABC (48.48% vs 15.38%, p = 0.012) and displayed 73 differentially expressed genes (e.g., DEPDC1, CCNA2, PSAT1, CDKN3, and FAM83D), enriched in DNA repair and cell proliferation pathways. Through the PPI network, we also identified a cluster of cell-cycle regulation genes like MYC, FOXM1, or PTEN. Interestingly, differences emerged when comparing patients diagnosed during gestation (PABC-GS) and the postpartum period (PABC-PP), with PABC-PP showing increased expression of immune-related genes, including PD-1, and greater immune cell infiltration (Tregs, macrophages, neutrophils, B-cells). These findings suggest an enhanced proliferative capacity and impaired DNA repair in PABC, and underscore the role of immune infiltration in postpartum cases; providing insights into its aggressive nature and potential targets.
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spelling doaj-art-9e990b6fd4f642cfae05e18b833d62c62025-02-09T12:48:27ZengNature Portfolionpj Breast Cancer2374-46772025-02-0111111610.1038/s41523-025-00718-xMolecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM studyRegina Peña-Enríquez0Begoña Bermejo1Marina Pollán2Alejandra Díaz-Chacón3Yolanda Jerez Gilarranz4José J Ponce Lorenzo5Antonio Fernández Aramburo6Blanca Cantos Sánchez de Ibargüen7Ana Santaballa Bertrán8Elena Galve-Calvo9Álvaro Jiménez-Arranz10Yolanda Fernández11María Eva Pérez12Susana De La Cruz13Antonio Anton-Torres14Fernando Moreno15María Jesús Vidal-Losada16María Helena López-Ceballos17Isabel Blancas18María José Echarri19Raúl Rincón20Rosalía Caballero21Ángel Guerrero-Zotano22Silvia Guil-Luna23Juan de la Haba-Rodríguez24Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)-Hospital Universitario Reina Sofía, Universidad de CórdobaGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupInstituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)-Hospital Universitario Reina Sofía, Universidad de CórdobaGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupInstituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)-Hospital Universitario Reina Sofía, Universidad de CórdobaGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupGEICAM, Spanish Breast Cancer GroupInstituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)-Hospital Universitario Reina Sofía, Universidad de CórdobaInstituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)-Hospital Universitario Reina Sofía, Universidad de CórdobaAbstract Pregnancy-associated breast cancer (PABC), diagnosed during or shortly after pregnancy, is a challenging entity with an aggressive biology and poor prognosis. This study analyzed the clinicopathological characteristics and gene expression profile of 33 PABC and 26 non-PABC patients using the nCounter BC360 Panel (NanoString). Notably, PABC showed a higher prevalence of basal-like tumors than non-PABC (48.48% vs 15.38%, p = 0.012) and displayed 73 differentially expressed genes (e.g., DEPDC1, CCNA2, PSAT1, CDKN3, and FAM83D), enriched in DNA repair and cell proliferation pathways. Through the PPI network, we also identified a cluster of cell-cycle regulation genes like MYC, FOXM1, or PTEN. Interestingly, differences emerged when comparing patients diagnosed during gestation (PABC-GS) and the postpartum period (PABC-PP), with PABC-PP showing increased expression of immune-related genes, including PD-1, and greater immune cell infiltration (Tregs, macrophages, neutrophils, B-cells). These findings suggest an enhanced proliferative capacity and impaired DNA repair in PABC, and underscore the role of immune infiltration in postpartum cases; providing insights into its aggressive nature and potential targets.https://doi.org/10.1038/s41523-025-00718-x
spellingShingle Regina Peña-Enríquez
Begoña Bermejo
Marina Pollán
Alejandra Díaz-Chacón
Yolanda Jerez Gilarranz
José J Ponce Lorenzo
Antonio Fernández Aramburo
Blanca Cantos Sánchez de Ibargüen
Ana Santaballa Bertrán
Elena Galve-Calvo
Álvaro Jiménez-Arranz
Yolanda Fernández
María Eva Pérez
Susana De La Cruz
Antonio Anton-Torres
Fernando Moreno
María Jesús Vidal-Losada
María Helena López-Ceballos
Isabel Blancas
María José Echarri
Raúl Rincón
Rosalía Caballero
Ángel Guerrero-Zotano
Silvia Guil-Luna
Juan de la Haba-Rodríguez
Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
npj Breast Cancer
title Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
title_full Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
title_fullStr Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
title_full_unstemmed Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
title_short Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study
title_sort molecular characterization of pregnancy associated breast cancer and insights on timing from geicam embarcam study
url https://doi.org/10.1038/s41523-025-00718-x
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