Abstract: Background and purpose: HSD3B1 (1245A>C) is linked to castration-resistant prostate cancer (CRPC), and could be a powerful genetic biomarker of the effectiveness of androgen deprivation therapy (ADT) in prostate cancer patients. This study aimed to compare the difference in HSD3B1 gene mutation frequency between the Chinese population and other races, and to explore the correlation between HSD3B1 gene polymorphism and clinicopathological characteristics of prostate cancer. Methods: A total of 180 prostate cancer patients in Fudan University Shanghai Cancer Center from Jun. 2014 to Jun. 2019 were retrospectively enrolled, and germline DNA samples of 180 prostate cancer patients were sequenced for HSD3B1 gene. To compare the difference in HSD3B1 mutation frequency between the Chinese population and other races, meanwhile, statistical methods were used to analyze the association between germline mutation status and clinical relevance. Results: Of the 286 patient samples analyzed, 38 harbored a mutational variant (1245C): 86.7% in AA, 13.0% in AC, 0.3% in CC. The frequency of mutation in HSD3B1 among Chinese prostate cancer patients was significantly lower compared with the figure reported by the American (13.3% vs 55.8%, P=0.01). In addition, the mean age of onset was significantly lower in the mutated group than in the normal group: 61±8 vs 66±7 (P<0.05). However, there was no difference in mutation frequencies according to prostate-specific antigen (PSA) level, Gleason score, metastases volume or clinical pathological stage (P>0.05). Conclusion: The age of onset of the HSD3B1 gene mutated group is lower than that of the normal group. Meanwhile, due to the low frequency of mutations in the Chinese population, HSD3B1 (1245A>C) cannot play a role in predicting the efficacy of ADT as it does in the American and European populations.

Key words: Prostate cancer, HSDcolor:#000000, font-family:&, font-size:12px, font-style:normal, font-weight:normal, line-height:1.5, text-decoration:none, ">3Bcolor:#000000, font-family:&, font-size:12px, font-style:normal, font-weight:normal, line-height:1.5, text-decoration:none, ">1, Gene polymorphism, Clinicopathological characteristics