{
  "abstract": "Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a strong propensity for lymph node metastasis, but its molecular features remain incompletely defined. We characterized the genomic and transcriptomic features of breast carcinomas with an invasive micropapillary component. Methods: Thirteen tumors with a micropapillary component of at least 10%, including four pure IMPCs, were analyzed by targeted sequencing (n = 11), whole-exome sequencing with array comparative genomic hybridization (n = 2), and whole-transcriptome sequencing (n = 9). Alteration frequencies were compared with TCGA-BRCA across all 375 panel genes, with multiple-testing correction and a sensitivity analysis restricted to truncating and hotspot variants. Results:TP53 was the most frequently altered gene (72.7%), followed by ERBB2 amplification (45.5%); PIK3CA and GATA3 were each altered in 27.3%. Four rarely mutated genes were more frequent than in TCGA-BRCA after correction, but these differences were based on few tumors and predominantly on uncertain missense variants and were not retained under the stringent definition. Recurrent high-level amplification was concentrated in 17q12-q21, and both pure IMPCs analyzed by array comparative genomic hybridization showed 8q gain. All five tumors with panel ERBB2 amplification were HER2-positive by immunohistochemistry, and TCGA-anchored PAM50 classified all three HER2-positive transcriptomes as HER2-enriched. Fourteen fusion transcripts were detected, none recurrent. Conclusions: These findings support a heterogeneous molecular landscape characterized by established breast cancer drivers, recurrent copy-number changes involving 8q and 17q, predominantly private fusion events, and cross-platform concordance of ERBB2 amplification with HER2 protein expression and PAM50 HER2-enriched classification.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.",
    "Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.",
    "Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul 06351, Republic of Korea."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Boram Lee"
    },
    {
      "affs": [
        1
      ],
      "name": "Je-Gun Joung",
      "orcid": "0000-0003-2859-1036"
    },
    {
      "affs": [
        2
      ],
      "name": "Woong-Yang Park"
    },
    {
      "affs": [
        0
      ],
      "name": "Hyunwoo Lee",
      "orcid": "0000-0001-7513-2882"
    },
    {
      "affs": [
        0
      ],
      "name": "Eun Yoon Cho",
      "orcid": "0000-0003-4675-4492"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0g0bxrabs5y8k.bib",
  "cited_by": 0,
  "doi": "10.3390/genes17101190",
  "fulltext_url": "https://europepmc.org/articles/PMC13704641",
  "id": "0g0bxrabs5y8k",
  "issns": [
    "2073-4425"
  ],
  "landing_url": "https://europepmc.org/article/MED/42938306",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1306|Breast Cancer Treatment Studies"
    ]
  ],
  "openalex": "W7214368081",
  "pdf_url": "https://europepmc.org/articles/PMC13704641?pdf=render",
  "pmcid": "PMC13704641",
  "pmid": "42938306",
  "published": "2026-09-25",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/0g0bxrabs5y8k.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:24Z",
      "native_id": "MED:42938306",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42938306"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1306|Breast Cancer Treatment Studies",
      "subfield": "oncology"
    }
  ],
  "title": "Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component.",
  "title_text": "Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:24Z",
  "url": "https://research.draconitic.com/paper/0g0bxrabs5y8k",
  "venue": "Genes",
  "versions": []
}