作者
Saurabh Yadav, Navonil De Sarkar, Niraj Kumari, Narendra Krishnani, Ashok Kumar, Balraj Mittal
发表日期
2017/11/1
来源
Cancer Genomics & Proteomics
卷号
14
期号
6
页码范围
495-506
出版商
International Institute of Anticancer Research
简介
Background
Gallbladder carcinoma (GBC) is a subtype of biliary tract malignancy with poor prognosis and high fatality rate. The present study was designed to uncover somatic and rare germline mutations in GBC to reveal the disease biology and understand the clinical importance of mutation profile in terms of prognostics and actionability.
Materials and Methods
We performed ultra-deep sequencing across 409 cancer-related genes in 11 GBC patients of North-Indian descent. NGS data analysis was performed using Ion Reporter and several other publicly available resources and databases.
Results
We identified 184 nonsynonymous somatic and 60 rare germline mutations in bona-fide cancer drivers such as SMAD family member 4 (SMAD4), lysine methyltransferase 2C (KMT2C), and tumor protein p53 (TP53). All the early-onset cases or hypermutated cases harbored mutation(s) in critical DNA-repair genes …
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