Abstract 5102
Background
Gastric cancer (GC) is one of the leading cause of cancer death in China, which is mainly caused by environmental and genetic risk factors. By far, the nature of the genetic factors related to gastric cancer has not been well-studied. The aim of this study was to assess the frequency of germline mutations in Chinese gastric cancer population.
Methods
Genomic profiling of DNA was performed through next-generation sequencing (NGS) on tissue or liquid biopsy from patients with gastric cancer between January 01, 2017 and May 07, 2019. Patients with germline pathogenic mutations were identified, and their clinical information were collected.
Results
750 gastric cancer patients were ultimately included for analysis. There were 476 (63.5%) male and 274 (36.5%) female patients. The median age was 61 (range, 26-88). A total of 27 (3.6%) pathogenic germline pathogenic mutations were identified in 13 genes from these patients. The mutations fell most frequently in BRCA2 (0.93%), ATM (0.67%), PALB2 (0.4%), CHEK2 (0.27%), and CDH1 (0.27%), which has been previously reported to underlie hereditary diffuse gastric cancer. Of all these mutations, 9 (69.2%) genes lay in the DNA damage repair pathways, including BRCA1, BRCA2, ATM, PALB2, CHEK2, MRE11A, ATR, and two DNA mismatch repair genes, MLH1 and MSH6, the mutation of which usually result in the presence of microsatellite instability (MSI) in tumor tissues.
Conclusions
This is the first study to explore the spectrum of pathogenic germline mutations in Chinese patients with gastric cancer. Our study has provided valuable clues for the assessment of the corresponding genetic susceptibility in gastric cancer.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Beijing Cancer Hospital.
Funding
Has not received any funding.
Disclosure
Z. Zhao: Full / Part-time employment: 3D Medicines Inc. Y. Zhang: Full / Part-time employment: 3D Medicines Inc. S. Cai: Full / Part-time employment: 3D Medicines Inc. All other authors have declared no conflicts of interest.
Resources from the same session
2078 - Comprehensive genomic profiling and clinical outcomes in patients (pts) with fibroblast growth factor receptor rearrangement-positive (FGFR2+) cholangiocarcinoma (CCA) treated with pemigatinib in the fight-202 trial
Presenter: Antoine Hollebecque
Session: Poster Display session 2
Resources:
Abstract
3879 - Efficacy of derazantinib (DZB) in patients (pts) with intrahepatic cholangiocarcinoma (iCCA) expressing FGFR2-fusion or FGFR2 mutations/amplifications
Presenter: Michele Droz Dit Busset
Session: Poster Display session 2
Resources:
Abstract
4679 - It’s Not Only About Weight Loss: Tackling Pancreatic Cancer-Associated Cachexia
Presenter: Ana Leonor Matos
Session: Poster Display session 2
Resources:
Abstract
2276 - Frequency and clinicopathological characteristics of biliary tract carcinomas harboring the FGFR2-fusion gene: a prospective observational study (PRELUDE study)
Presenter: Masafumi Ikeda
Session: Poster Display session 2
Resources:
Abstract
2773 - Post-hoc analyses of a subgroup of patients with advanced biliary tract cancer (BTC) who crossed over to treatment with etoposide toniribate (EDO-S7.1) in a randomized Phase II study
Presenter: Ulrich-Frank Pape
Session: Poster Display session 2
Resources:
Abstract
4479 - Capecitabine +Best supportive care (BSC) or Erlotinib +BSC has Overall survival (OS) benefit over BSC alone in unresectable/metastatic Gall bladder cancer(GBC) patients with ECOG PS-III. Results from a phase II Randomised controlled trial (RCT)
Presenter: Babita Kataria
Session: Poster Display session 2
Resources:
Abstract
4843 - FGFR2 fusions and its effect of patient (pt) outcomes in intrahepatic cholangiocarcinoma (iCCA)
Presenter: Daniel Almquist
Session: Poster Display session 2
Resources:
Abstract
2324 - The Clinical Outcomes of Systemic Chemotherapy in Patients with Unresectable or Metastatic Combined Hepatocellular-cholangiocarcinoma (HCC-CCA): Retrospective Study of 120 Patients
Presenter: Eojin Kim
Session: Poster Display session 2
Resources:
Abstract
3678 - High PD-L1 expression is associated with treatment response to pembrolizumab in patients with advanced biliary tract cancer.
Presenter: Gilhyang Kim
Session: Poster Display session 2
Resources:
Abstract
3901 - Genomic profiling in Chinese biliary tract cancer patients with PI3K/AKT/mTOR pathway and RAS gene mutations
Presenter: Jingyu Cao
Session: Poster Display session 2
Resources:
Abstract