Detection of germline variants in pancreatic cancer by next-generation sequencing and correlation analysis of clinical factors
10.3969/j.issn.1672-8467.2024.01.003
- VernacularTitle:基于二代测序技术的胰腺癌胚系变异携带情况及临床因素相关性分析
- Author:
Hui-Qin JIANG
1
;
Li ZHANG
;
Fei HUANG
;
Xin-Ning CHEN
;
Li YU
;
Min-Na SHEN
;
Bei-Li WANG
;
Bai-Shen PAN
;
Wei GUO
Author Information
1. 复旦大学附属中山医院检验科 上海 200032;上海市老年医学中心检验科 上海 201100
- Keywords:
pancreatic cancer;
germline variants;
next-generation sequencing;
clinical factors
- From:
Fudan University Journal of Medical Sciences
2024;51(1):19-24
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the rate of germline variants in patients with pancreatic cancer and clinical characteristics related with germline variants.Methods A total of 271 patients diagnosed with pancreatic cancer were enrolled in this study.Germline variants of 21 tumor susceptibility genes were detected by next-generation sequencing,and the relationship between germline variants and clinical factors such as age of onset,family history and personal history was analyzed.Results The rate of germline P/LP variants was 6.3%in unselected pancreatic cancer patients,but was high as 17.1%in genetic high-risk group patients(those with a family or personal history of cancer,or early-onset).Genes with higher frequency of germline variants in pancreatic cancer patients were PALB2,BRCA2,and ATM.Conclusion The rate of germline variants in overall pancreatic cancer patients is not high,but it increases significantly in genetic high-risk group,proving the importance of clinical factors in the screening of hereditary pancreatic cancer.
