ArticleHistopathology2019
Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast.
Article in Histopathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- World Health Organization classification of tumours of the breast 6th edition 2026.Histopathology · 2026Review
- Clinicopathologic features, treatment patterns and survival outcomes of acinic cell carcinoma of the breast: a national cancer database analysis.Breast cancer research and treatment · 2026Article
- Two similar but distinct types of breast acinar cell carcinoma: evidence from histological, immunohistochemical and molecular features.Histopathology · 2025Article
- Acinic Cell Carcinoma of the Breast: A Population-Based Clinicopathologic Study.Cancer reports (Hoboken, N.J.) · 2025Article
- Elucidating the nature of acinic cell carcinoma of the breast with high-grade morphology: evidence from case report.Diagnostic pathology · 2024Article
- Clinicopathological, immunohistochemical and molecular features of acinic cell carcinoma of the breast.Oncology letters · 2024Article
- New insights into acinic cell carcinoma of the breast: clinicopathology, origin of histology, molecular features, prognosis, and treatment.Frontiers in oncology · 2024Review
- Breast acinic cell carcinoma with weak progesterone receptor expression: a case report and literature review.Frontiers in oncology · 2024Article
- NR4A3 Expression Is Consistently Absent in Acinic Cell Carcinomas of the Breast: A Potential Nosologic Shift.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- High grade acinic cell carcinoma of the breast with clear cytoplasm mimics clear cell carcinoma in a BRCA1 mutation carrier: a case report and review of the literature on the molecular analysis.Histology and histopathology · 2023Review
- Analysis of clinicopathologic features and expression of NR4A3 in sinonasal acinic cell carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Pathogenesis of Triple-Negative Breast Cancer.Annual review of pathology · 2022Review
- Protein tyrosine phosphatase, receptor type B is a potential biomarker and facilitates cervical cancer metastasis via epithelial-mesenchymal transition.Bioengineered · 2021Article
- Review
- Problematic breast tumors reassessed in light of novel molecular data.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Review
- Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes.NPJ breast cancer · 2020Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
aimsAcinic cell carcinoma (ACC) of the breast is a rare histological form of triple-negative breast cancer (TNBC). Despite its unique histology, targeted sequencing analysis has failed to identify recurrent genetic alterations other than those found in common forms of TNBC. Here we subjected three breast ACCs to whole-exome and RNA sequencing to determine whether they would harbour a pathognomonic genetic alteration. METHODS AND
resultsDNA and RNA samples from three breast ACCs were subjected to whole-exome sequencing and RNA-sequencing, respectively. Somatic mutations, copy number alterations, mutational signatures and fusion genes were determined with state-of-the-art bioinformatics methods. Our analyses revealed TP53 hotspot mutations associated with loss of heterozygosity of the wild-type allele in two cases. Mutations affecting homologous recombination DNA repair-related genes were found in two cases, and an MLH1 pathogenic germline variant was found in one case. In addition, copy number analysis revealed the presence of a somatic BRCA1 homozygous deletion and focal amplification of 12q14.3-12q21.1, encompassing MDM2, HMGA2, FRS2, and PTPRB. No oncogenic in-frame fusion transcript was identified in the three breast ACCs analysed.
conclusionsNo pathognomonic genetic alterations were detected in the breast ACCs analysed. These tumours have somatic genetic alterations similar to those of common forms of TNBC, and may show homologous recombination deficiency or microsatellite instability. These findings provide further insights into why breast ACCs, which are usually clinically indolent, may evolve into or in parallel with high-grade TNBC.
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Registered trials
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.