دورية أكاديمية
Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion
| العنوان: | Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
|---|---|
| المؤلفون: | María D. Pérez-Montiel, Dennis Cerrato-Izaguirre, Yesennia Sánchez-Pérez, Jose Diaz-Chavez, Carlo César Cortés-González, Jairo A. Rubio, Miguel A. Jiménez-Ríos, Luis A. Herrera, Anna Scavuzzo, Abelardo Meneses-García, Ricardo Hernández-Martínez, Felipe Vaca-Paniagua, Andrea Ramírez, Alicia Orozco, David Cantú-de-León, Diddier Prada |
| المصدر: | International Journal of Molecular Sciences, Vol 24, Iss 2, p 1092 (2023) |
| بيانات النشر: | MDPI AG, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | bladder cancer, Hispanics, Mexican population, mutations, cancer genomics, non-muscle invasive bladder cancer, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Bladder cancer (BC) is the most common neoplasm of the urinary tract, which originates in the epithelium that covers the inner surface of the bladder. The molecular BC profile has led to the development of different classifications of non-muscle invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC). However, the genomic BC landscape profile of the Mexican population, including NMIBC and MIBC, is unknown. In this study, we aimed to identify somatic single nucleotide variants (SNVs) and copy number variations (CNVs) in Mexican patients with BC and their associations with clinical and pathological characteristics. We retrospectively evaluated 37 patients treated between 2012 and 2021 at the National Cancer Institute—Mexico (INCan). DNA samples were obtained from paraffin-embedded tumor tissues and exome sequenced. Strelka2 and Lancet packages were used to identify SNVs and insertions or deletions. FACETS was used to determine CNVs. We found a high frequency of mutations in TP53 and KMT2D, gains in 11q15.5 and 19p13.11-q12, and losses in 7q11.23. STAG2 mutations and 1q11.23 deletions were also associated with NMIBC and low histologic grade. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/24/2/1092; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms24021092 |
| URL الوصول: | https://doaj.org/article/1a98f05559194bfc857e51e71ca25fae |
| رقم الأكسشن: | edsdoj.1a98f05559194bfc857e51e71ca25fae |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
|---|---|
| DOI: | 10.3390/ijms24021092 |