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
2674 - Multicenter Phase I Trial of Trastuzumab Emtansine (T-DM1) in Combination with Non-Pegylated Liposomal Doxorubicin (NPLD) in HER2[+] Metastatic Breast Cancer (MBC). THELMA Study
Presenter: Elena López-Miranda
Session: Poster Display session 2
Resources:
Abstract
1398 - Phase 1 study of liposomal formulation of eribulin (E7389-LF) in patients (pts) with advanced solid tumors: primary results of dose-escalation part
Presenter: Noboru Yamamoto
Session: Poster Display session 2
Resources:
Abstract
5818 - Polo-like Kinase 1 inhibitor onvansertib synergizes with paclitaxel in breast cancer carrying p53 mutation
Presenter: Antonio Giordano
Session: Poster Display session 2
Resources:
Abstract
5927 - Phase 1b study of heat shock protein 90 inhibitor, onalespib in combination with paclitaxel in patients with advanced, triple negative breast cancer (NCT02474173).
Presenter: Robert Wesolowski
Session: Poster Display session 2
Resources:
Abstract
1695 - Impact of pertuzumab and T-DM1 on prognosis of HER2-positive metastatic breast cancer (MBC) and factors affecting their efficacy: results from the AGMT_MBC-Registry
Presenter: Simon Peter Gampenrieder
Session: Poster Display session 2
Resources:
Abstract
1742 - Clinical profile and outcome of HER2 positive breast cancer patients with brain metastases treated with HER2 targeted therapy: Real world experience.
Presenter: Prabhat Bhargava
Session: Poster Display session 2
Resources:
Abstract
1846 - Pertuzumab, trastuzumab, and docetaxel for HER2-positive metastatic breast cancer: results of single arm phase IV COMACHI study
Presenter: Norikazu Masuda
Session: Poster Display session 2
Resources:
Abstract
5385 - Anti HER-2 Therapies and Left Ventricular Dysfunction The Renaissance Study
Presenter: ANDRES DANIELE
Session: Poster Display session 2
Resources:
Abstract
3320 - Safety and efficacy of T-DM1 in 128 patients with advanced HER2+ breast cancer: The Royal Marsden experience.
Presenter: Nicolò Battisti
Session: Poster Display session 2
Resources:
Abstract
4540 - Use of trastuzumab emtansine (T-DM1; K) after pertuzumab + trastuzumab (PH) in patients with HER2-positive metastatic breast cancer (mBC): challenges in assessing effectiveness of treatment sequencing in the real world (RW)
Presenter: Thibaut Sanglier
Session: Poster Display session 2
Resources:
Abstract