American Association for Cancer Research
cd-22-1340_table_s1_suppst1.docx (20.03 kB)

Table S1 from Early-Stage Breast Cancer Detection in Breast Milk

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journal contribution
posted on 2023-10-05, 07:20 authored by Cristina Saura, Carolina Ortiz, Judit Matito, Enrique J. Arenas, Anna Suñol, Ágatha Martín, Octavi Córdoba, Alex Martínez-Sabadell, Itziar García-Ruiz, Ignacio Miranda, Clara Morales-Comas, Estela Carrasco, Cristina Viaplana, Vicente Peg, Paolo Nuciforo, Neus Bayó-Puxan, Alberto Gonzalez-Medina, Josep M. Miquel, Marina Gómez-Rey, Guillermo Villacampa, Silvia Arévalo, Martín Espinosa-Bravo, Judith Balmaña, Rodrigo Dienstmann, Joaquin Arribas, Josep Tabernero, Ana Vivancos, Miriam Sansó

VHIO-300 NGS panel gene list


Agencia Estatal de Investigación (AEI)

Fundación Científica Asociación Española Contra el Cáncer (AECC)

Fundación Fero (Fundació Fero)

Instituto de Salud Carlos III (ISCIII)

Ministerio de Ciencia e Innovación (MCIN)

Breast Cancer Research Foundation (BCRF)

European Comision/ERA-NET

Generalitat de Catalunya (Government of Catalonia)

Sociedad Española de Oncología Médica (SEOM)



Breast cancer occurring during pregnancy (PrBC) and postpartum (PPBC) is usually diagnosed at more advanced stages compared with other breast cancer, worsening its prognosis. PPBC is particularly aggressive, with increased metastatic risk and mortality. Thus, effective screening methods to detect early PrBC and PPBC are needed. We report for the first time that cell-free tumor DNA (ctDNA) is present in breast milk (BM) collected from patients with breast cancer. Analysis of ctDNA from BM detects tumor variants in 87% of the cases by droplet digital PCR, while variants remain undetected in 92% of matched plasma samples. Retrospective next-generation sequencing analysis in BM ctDNA recapitulates tumor variants, with an overall clinical sensitivity of 71.4% and specificity of 100%. In two cases, ctDNA was detectable in BM collected 18 and 6 months prior to standard diagnosis. Our results open up the potential use of BM as a new source for liquid biopsy for PPBC detection. For the first time, we show that BM obtained from patients with breast cancer carries ctDNA, surpassing plasma-based liquid biopsy for detection and molecular profiling of early-stage breast cancer, even prior to diagnosis by image.See related commentary by Cunningham and Turner, p. 2125.This article is featured in Selected Articles from This Issue, p. 2109

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