التفاصيل البيبلوغرافية
| العنوان: |
Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma |
| المؤلفون: |
Kai Ma, Youpeng Wang, Yuanzheng Zhang, Hongfa Sun, Xuhui Zhang, Chuandong Sun, Bingyuan Zhang, Ying Zhang, Haoyue Cheng, Ao Liu, Mengyao Wang, Bing Han |
| المصدر: |
Cancers; Volume 14; Issue 20; Pages: 5062 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2022 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
cholangiocarcinoma, capture-based targeted sequencing, actionable genetic alterations, mutation landscape, biomarker |
| الوصف: |
The early diagnosis and treatment of cholangiocarcinoma (CCA) remain a challenge worldwide. Genetic testing promises to solve these problems. Due to the different mutation landscapes across populations and the paucity of sequencing data of Chinese patients with CCA, the existing mutation landscape is insufficient to reflect the mutation characteristics of Chinese patients. Thus, we retrospectively analyzed 72 Chinese patients with CCA who had received genetic testing of targeted capture sequencing. A total of 2152 somatic mutations were detected in 56 (77.78%) patients, of which, the frequently mutated driver genes were TP53 (27.78%), KMT2D (23.81%), KMT2C (20.63%), BCOR (18.06%), APC (15.28%), BAP1 (13.89%), ARID1A (12.50%), NF1 (12.50%), PIK3CA (12.50%), KRAS (11.11%), and LRP1B (11.11%). Most mutations were enriched in NRF2, TP53, and TGF-Beta oncogenic signaling pathways and cadherin repeat domains which were associated with intercellular adhesion. Based on cancer-related public databases and multiple protein function prediction algorithms, we identified 118 novel pathogenic or likely pathogenic somatic mutations and 77 actionable alterations. Molecular analysis of tumors from a precision oncology perspective can provide potential targets for early diagnosis and treatment of CCA and assist physicians in clinical decision making. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Cancer Biomarkers; https://dx.doi.org/10.3390/cancers14205062 |
| DOI: |
10.3390/cancers14205062 |
| الاتاحة: |
https://doi.org/10.3390/cancers14205062 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.AC5C2EE6 |
| قاعدة البيانات: |
BASE |