دورية أكاديمية
أعرض في EDS

Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.

التفاصيل البيبلوغرافية
العنوان: Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.
المؤلفون: Marlin R; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique. Regine.marlin@chu-martinique.fr., Loger JS; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique., Joachim C; General Cancer Registry of Martinique, University Hospital of Martinique, Fort-de-France, Martinique., Ebring C; Department of Gynecological and Breast Surgery, University Hospital of Martinique, Fort-de-France, Martinique., Robert-Siegwald G; MitoVasc Unit, SFR ICAT, Mitolab Team, UMR CNRS 6015 INSERM U1083, University of Angers, Angers, France., Pennont S; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique., Rose M; Martinique Regional Oncology Platform, University Hospital of Martinique, Fort-de-France, Martinique., Raguette K; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique., Suez-Panama V; Biological Resource Center, University Hospital of Martinique, Fort-de-France, Martinique., Ulric-Gervaise S; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique., Lusbec S; Department of Gynecological and Breast Surgery, University Hospital of Martinique, Fort-de-France, Martinique., Bera O; Department of Cancer Molecular Genetics, University Hospital of Martinique, Fort-de-France, Martinique., Vallard A; Department of Oncology Hematology Urology, University Hospital of Martinique, Fort-de-France, Martinique., Aline-Fardin A; Cerbapath, Cerba, Martinique., Colomba E; Department of Cancer Medicine, Institut Gustave Roussy, University of Paris Saclay, Gif-sur-Yvette, France., Jean-Laurent M; Department of Gynecological and Breast Surgery, University Hospital of Martinique, Fort-de-France, Martinique.
المصدر: Cellular oncology (Dordrecht, Netherlands) [Cell Oncol (Dordr)] 2024 Aug; Vol. 47 (4), pp. 1441-1457. Date of Electronic Publication: 2024 Apr 02.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 101552938 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-3436 (Electronic) Linking ISSN: 22113428 NLM ISO Abbreviation: Cell Oncol (Dordr) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Dordrecht : Springer
مواضيع طبية MeSH: Endometrial Neoplasms*/genetics , Endometrial Neoplasms*/pathology , Cyclin E*/genetics , Oncogene Proteins*/genetics , DNA Copy Number Variations*/genetics , Gene Amplification* , Neoplasm Grading*, Female ; Humans ; Carcinogenesis/genetics ; Middle Aged ; Exome Sequencing ; DNA Replication/genetics ; Prognosis ; Aged
مستخلص: Purpose: Managing high-grade endometrial cancer in Martinique poses significant challenges. The diversity of copy number alterations in high-grade endometrial tumors, often associated with a TP53 mutation, is a key factor complicating treatment. Due to the high incidence of high-grade tumors with poor prognosis, our study aimed to characterize the molecular signature of these tumors within a cohort of 25 high-grade endometrial cases.
Methods: We conducted a comprehensive pangenomic analysis to categorize the copy number alterations involved in these tumors. Whole-Exome Sequencing (WES) and Homologous Recombination (HR) analysis were performed. The alterations obtained from the WES were classified into various signatures using the Copy Number Signatures tool available in COSMIC.
Results: We identified several signatures that correlated with tumor stage and disctinct prognoses. These signatures all seem to be linked to replication stress, with CCNE1 amplification identified as the primary driver of oncogenesis in over 70% of tumors analyzed.
Conclusion: The identification of CCNE1 amplification, which is currently being explored as a therapeutic target in clinical trials, suggests new treatment strategies for high-grade endometrial cancer. This finding holds particular significance for Martinique, where access to care is challenging.
(© 2024. The Author(s).)
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فهرسة مساهمة: Keywords: CCNE1 amplification; Copy number signature; High-grade endometrial cancer; Replication stress
المشرفين على المادة: 0 (Cyclin E)
0 (CCNE1 protein, human)
0 (Oncogene Proteins)
تواريخ الأحداث: Date Created: 20240402 Date Completed: 20240813 Latest Revision: 20240816
رمز التحديث: 20240816
مُعرف محوري في PubMed: PMC11322381
DOI: 10.1007/s13402-024-00942-w
PMID: 38564163
قاعدة البيانات: MEDLINE
الوصف
تدمد:2211-3436
DOI:10.1007/s13402-024-00942-w