A FANCD2 gene mutation case analysis providing potential insights into the molecular mechanisms of gastric adenocarcinoma: A case report

The present case report describes the potential role of Fanconi anaemia complementation group D2 (FANCD2) gene mutations in poorly differentiated gastric adenocarcinoma. A 32-year-old male patient was found to have poorly differentiated adenocarcinoma by gastrointestinal endoscopy and pathological examination confirmed this diagnosis. The N1378Sfs*5 mutation in the FANCD2 gene was identified by gene sequencing of postoperative tissues. FANCD2 gene mutation leads to the instability and abnormal function of FANCD2 protein, which may promote the development and progression of gastric cancer. Bioinformatics was used to analyze gastric cancer data and identified key DNA repair genes and FANCD2's core pathways via gene set enrichment analysis and a protein-protein interactin network. FANCD2 gene mutation not only affects the DNA repair process but may also be involved in cell cycle regulation and apoptosis pathway, which plays an important role in the development of gastric adenocarcinoma. As FANCD2 gene mutation may be a risk factor for familial gastric cancer, genetic counselling services and early screening programs for FANCD2 gene mutation should be developed, with a special focus on individuals with a family history of gastric cancer.