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

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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Summary: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.
ISSN:2374-4677

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