ArticleNPJ breast cancer2021
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
Article in NPJ breast cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- Circadian clock control of breast cancer hallmarks: molecular mechanisms and therapeutic implications.Cancer metastasis reviews · 2026Review
- Microglandular adenosis, triple negative breast carcinoma and DNA repair defects.Journal of clinical pathology · 2026Article
- Genomic landscape of breast cancer in elderly patients.NPJ breast cancer · 2025Article
- Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence.Cancer research · 2025Review
- Starfysh integrates spatial transcriptomic and histologic data to reveal heterogeneous tumor-immune hubs.Nature biotechnology · 2025Article
- Unraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.NPJ breast cancer · 2025Review
- Long-term breast cancer response to CDK4/6 inhibition defined by TP53-mediated geroconversion.Cancer cell · 2024Article
- A comprehensive overview of metaplastic breast cancer: Features and treatments.Cancer science · 2024Review
- Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations.NPJ precision oncology · 2024Article
- Review
- Mechanisms of Breast Cancer Stem Cell Specification and Self-Renewal Mediated by Hypoxia-Inducible Factor 1.Stem cells translational medicine · 2023Article
- TERT promoter mutations and gene amplification in endometrial cancer.Gynecologic oncology · 2023Article
- Modulation of JAK-STAT Signaling by LNK: A Forgotten Oncogenic Pathway in Hormone Receptor-Positive Breast Cancer.International journal of molecular sciences · 2023Review
- Clinicopathologic and genomic features of lobular like invasive mammary carcinoma: is it a distinct entity?NPJ breast cancer · 2023Article
- The mixed subtype has a worse prognosis than other histological subtypes: a retrospective analysis of 217 patients with metaplastic breast cancer.Breast cancer research and treatment · 2023Article
- Nuclear and Cytoplasmic hTERT, Tumor-Infiltrating Lymphocytes, and Telomere Elongation Leukocytes Are Independent Factors in the Response to Neoadjuvant Treatment in HER2-Enriched Breast Cancer.Current oncology (Toronto, Ont.) · 2023Article
- Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.Histopathology · 2023Review
- Clinicopathological features and genomic profiles of a group of secretory breast carcinomas in which progressive cases have more complex genomic features.Diagnostic pathology · 2022Article
- TAaCGH Suite for Detecting Cancer-Specific Copy Number Changes Using Topological Signatures.Entropy (Basel, Switzerland) · 2022Article
- Relationship between Telomere Length,International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
19 authors at 1 institution in 2 countries.
Funding
Abstract
Metaplastic breast cancers (MBCs) are characterized by complex genomes, which seem to vary according to their histologic subtype. TERT promoter hotspot mutations and gene amplification are rare in common forms of breast cancer, but present in a subset of phyllodes tumors. Here, we sought to determine the frequency of genetic alterations affecting TERT in a cohort of 60 MBCs with distinct predominant metaplastic components (squamous, 23%; spindle, 27%; osseous, 8%; chondroid, 42%), and to compare the repertoire of genetic alterations of MBCs according to the presence of TERT promoter hotspot mutations or gene amplification. Forty-four MBCs were subjected to: whole-exome sequencing (WES; n = 27) or targeted sequencing of 341-468 cancer-related genes (n = 17); 16 MBCs were subjected to Sanger sequencing of the TERT promoter, TP53 and selected exons of PIK3CA, HRAS, and BRAF. TERT promoter hotspot mutations (n = 9) and TERT gene amplification (n = 1) were found in 10 of the 60 MBCs analyzed, respectively. These TERT alterations were less frequently found in MBCs with predominant chondroid differentiation than in other MBC subtypes (p = 0.01, Fisher's exact test) and were mutually exclusive with TP53 mutations (p < 0.001, CoMEt). In addition, a comparative analysis of the MBCs subjected to WES or targeted cancer gene sequencing (n = 44) revealed that MBCs harboring TERT promoter hotspot mutations or gene amplification (n = 6) more frequently harbored PIK3CA than TERT wild-type MBCs (n = 38; p = 0.001; Fisher's exact test). In conclusion, TERT somatic genetic alterations are found in a subset of TP53 wild-type MBCs with squamous/spindle differentiation, highlighting the genetic diversity of these cancers.
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Registered trials
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