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Germline mutations in hereditary diffuse gastric cancer
Hao Zhang1,2, Mengmeng Feng1, Yi Feng1
1Surgery Laboratory, the Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China.
Summary
Hereditary diffuse gastric cancer (HDGC) is often caused by CDH1 gene mutations. This review covers HDGC gene mutations, prevention, diagnosis, and risk management, emphasizing genetic counseling for affected families.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Gastric cancer is a leading cause of cancer deaths globally.
- Hereditary diffuse gastric cancer (HDGC) accounts for 1%-3% of gastric cancer cases.
- CDH1 germline mutations are the primary cause of HDGC.
Purpose of the Study:
- To review identified germline mutations in HDGC.
- To discuss candidate susceptibility genes for HDGC.
- To provide information on HDGC prevention, diagnosis, and risk management.
Main Methods:
- Literature review of genetic testing technologies and data analysis.
- Analysis of National Comprehensive Cancer Network (NCCN) guidelines.
- Overview of genetic counseling and multidisciplinary team (MDT) roles.
Main Results:
- Several genes are implicated as potential susceptibility genes for HDGC.
- CDH1 mutations necessitate prophylactic gastrectomy or endoscopic surveillance per NCCN guidelines.
- Genetic counseling is crucial for risk management planning for mutation carriers.
Conclusions:
- Further research is needed on factors influencing risk management decisions.
- Expanded genetic data collection from cancer syndrome pedigrees is required.
- Development of standardized risk management solutions benefits HDGC patients.
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