中国胆道癌患者胚系和体细胞基因组图谱数据集表1

数据集获取（Figshare）

• 源站标题：Table_1_Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.docx
• DOI：10.3389/fonc.2022.930611.s003
• 发布日期：2022-08-22
• 文件数：1 个
• 文件总体积：26.55 KB
• 源站页面：https://frontiersin.figshare.com/articles/dataset/Table_1_Comprehensive_germline_and_somatic_genomic_profiles_of_Chinese_patients_with_biliary_tract_cancer_docx/20525424

命令行下载

curl -L -o "Table_1_Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.docx" "https://ndownloader.figshare.com/files/36741504"

文件清单

• Table_1_Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.docx（26.55 KB）

文件总体积 26.55 KB（源站 API 实测）。

数据加载示例（图像类）

from PIL import Image
import glob, os

files = (glob.glob(os.path.join(path, "**", "*.png"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.jpg"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.tif"), recursive=True))
print("图像文件数:", len(files))
img = Image.open(files[0]); print("尺寸/模式:", img.size, img.mode)

# torchvision Dataset 方式:
# from torchvision import datasets
# ds = datasets.ImageFolder(path)  # 要求 子目录=类别

目录组织与标注格式以源站说明和下载后实际文件为准。

数据说明

BackgroundBiliary tract cancer (BTC) is an uncommon but highly lethal malignancy with poor clinical outcomes. To promote the development of precision medicine for BTC, uncovering its genomic profile becomes particularly important. However, studies on the genomic feature of Chinese BTC patients remain insufficient.
MethodsA total of 382 Chinese patients with BTC were enrolled in this study, including 71 with intrahepatic cholangiocarcinoma (ICC), 194 with extrahepatic cholangiocarcinoma (ECC), and 117 with gallbladder carcinoma (GBC). Genetic testing was performed by utilizing the next-generation sequencing (NGS) of 499 cancer-related genes and the results were compared to those of Western BTC patients (MSKCC cohorts).
ResultsThe most prevalent genes were TP53 (51.6%), ARID1A (25.9%), KMT2C (24.6%), NCOR1 (17%), SMAD4 (15.2%), KRAS (14.9%), KMT2D (14.9%), ATM (14.1%), and APC (13.9%) in Chinese BTC patients. TP53, SMAD4, and APC were more prevalent in GBC, ECC, and ICC, respectively. In addition, 10.5% of Chinese BTC patients harbored pathogenic or likely pathogenic (P/LP) germline alterations in 41 genes, which were mainly related to DNA damage repair (DDR). Additionally, the genomic features of Chinese and Western BTC tumors were similar, with the exception of the notable difference in the prevalence of TP53, KRAS, IDH1, KMT2C, and SMAD4. Notably, Chinese BTC patients had high prevalence (57.1%) of actionable alterations, especially for those with ECC, and half (192/382) of them had somatic DDR alterations, with the prevalence of deleterious ones being significantly higher than their Western counterparts. Twenty-three percent of patients had a higher tumor mutational burden (TMB-H, over 10 mutations/MB), and TMB was significantly higher in those with deleterious DDR alterations and/or microsatellite instability-high. The most common mutational signature in BTC patients was Signature 1, and interestingly, Signatures 1, 4, and 26 were significantly associated with higher TMB level, but not with the survival of patients who had received immunotherapy in pan-cancer.
ConclusionOur study elaborated the distinct germline and somatic genomic characteristics of Chinese

许可

CC BY 4.0

引用

学术使用请引用 DOI 10.3389/fonc.2022.930611.s003（source: https://frontiersin.figshare.com/articles/dataset/Table_1_Comprehensive_germline_and_somatic_genomic_profiles_of_Chinese_patients_with_biliary_tract_cancer_docx/20525424）。