Evidence map›Paper›PMID 40319412›Full record

ArticleClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico2025

Dysfunctional mismatch repair in patients with early triple-negative breast cancer.

María Muñiz-Castrillo, Noel Blaya Boluda, Esmeralda García-Torralba, Paula Jiménez-Fonseca, Carmen González Del Rey, Milagros Balbín, Ginés Luengo-Gil, Francisco Ayala de la Peña, Emilio Esteban González, Alberto Carmona-Bayonas

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Article in Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

María Muñiz-CastrilloDepartment of Medical Oncology, Hospital Universitario Central de Asturias (HUCA), Avenida de Roma s/n, 33011, Oviedo, Spain. mmunizcastrillo@gmail.com.ORCID http://orcid.org/0000-0002-3567-7519
Noel Blaya BoludaDepartment of Medical Oncology, Hospital Universitario Morales Meseguer (HUMM), Murcia, Spain.
Esmeralda García-TorralbaDepartment of Medical Oncology, Hospital Universitario Morales Meseguer (HUMM), Murcia, Spain.
Paula Jiménez-FonsecaDepartment of Medical Oncology, Hospital Universitario Central de Asturias (HUCA), Avenida de Roma s/n, 33011, Oviedo, Spain.
Carmen González Del ReyDepartment of Pathology, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain.
Milagros BalbínLaboratory of Molecular Oncology, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain.
Ginés Luengo-GilInstituto Murciano de Investigación Biosanitaria (IMIB), Murcia, Spain.
Francisco Ayala de la PeñaDepartment of Medical Oncology, Hospital Universitario Morales Meseguer (HUMM), Murcia, Spain.
Emilio Esteban GonzálezDepartment of Medical Oncology, Hospital Universitario Central de Asturias (HUCA), Avenida de Roma s/n, 33011, Oviedo, Spain.
Alberto Carmona-BayonasDepartment of Medical Oncology, Hospital Universitario Morales Meseguer (HUMM), Murcia, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWhile mismatch repair (MMR) deficiency is well-characterized in several cancers, its role in triple-negative breast cancer (TNBC) remains unclear. We comprehensively assessed MMR in early-stage TNBC, examining its prevalence, clinical correlations, prognostic value, relationship with microsatellite instability (MSI), and patterns of intratumoral heterogeneity.

methodsTwo early-stage TNBC cohorts were investigated for germline mutations using next-generation sequencing, protein expression by immunohistochemistry, and MSI status through molecular detection. Associations with clinicopathological characteristics and survival were examined. Results were validated using The Cancer Genome Atlas (TCGA) data.

resultsAmong 259 patients, MMR deficiency was observed in 8.2%, all showing PMS2 loss, while 2 germline PMS2 mutations (2.7%) were detected. At the somatic level, 35.8% showed heterogeneous MMR expression, more frequently in earlier stages (IA-IIA 41.4% vs. IIB-III 22.4%, p = 0.04) and smaller tumors (cT1-2 39.1% vs. cT3-4 18.5%, p = 0.01). MMR status showed no significant associations with other clinicopathological variables or survival. No MSI was detected in MMR-deficient cases. The 5-year recurrence rate was 16.0% (95% CI 10.0-24.0) for MMR-intact, 20.0% (95% CI 4.5-43.0) for MMR-deficient, and 17.9% (95% CI 9.8-28.1) for heterogeneous tumors (p = 0.75). Pathological complete response to neoadjuvant chemotherapy was similar across MMR status groups. These findings were consistent with analyses using TCGA data.

conclusionMMR system shows a low rate of alterations in TNBC, with its deficiency being infrequent and not correlated with MSI. Although MMR system isolated evaluation may not be justified in early-stage TNBC due to its limited clinical impact, its inclusion in multigene panels should be further considered.

Indexed as

DNA Mismatch RepairTriple Negative Breast NeoplasmsAdultAgedFemaleGerm-Line MutationHumansMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2PrognosisMismatch Repair Endonuclease PMS2PMS2 protein, humanBiomarkersImmunotherapyMicrosatellite instabilityMismatch repair systemMMRTriple-negative breast cancer

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.