Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients

• Published in: Frontiers in oncology 2022-02, Vol.12, p.746102-746102
• Main Authors: Chen, Wei, Xia, Wei, Xue, Song, Huang, Hang, Lin, Qi, Liu, Yi, Liu, Tongtong, Zhang, Yiqun, Zhang, Panwang, Wang, Jianfei, Yang, Yining, Dong, Baijun, Yu, Zhixian
• Format: Article
• Language: English
• Subjects: BRCA variants; BRCA1 and BRCA2 germline mutations; Oncology; pathogenic rate; prostate cancer in China; somatic mutation
• ISSN: 2234-943X; 2234-943X
• DOI: 10.3389/fonc.2022.746102

Recent studies have indicated that prostate cancer (PCa) with mutations is more aggressive. However, these reports mostly focused on Caucasus populations, and large-scale studies on mutations in Chinese PCa populations remain limited. Herein, we screened, from multiple centers in China, a total of 172 patients with PCa carrying germline mutations. The variant distribution and type, associated somatic variant, and frequency of the germline variants in these patients were analyzed retrospectively. We found that Chinese patients with PCa carrying germline mutations were diagnosed at an earlier age, i.e., 67 years (range, 34-89 years), and most had metastatic castration-resistant PCa (mCRPC) (54.65%, 94/172). The top three variants were frameshift, missense, and splicing variants. The overall pathogenic rates of the and variants were 17.46% (11/63) and 56.55% (82/145), respectively. Among the somatic mutations associated with germline mutations, the highest frequency was for (circulating tumor DNA [ctDNA] sequencing, 7.4%; tissue samples, 52%) and mutations (ctDNA sequencing, 7.4%; tissue samples, 24%); was the dominant somatic mutation associated with germline mutations (ctDNA sequencing, 25%; tissue samples, 17%). Ultimately, in Chinese patients, PCa with /2 germline mutations tends to be more aggressive. Compared with , has a higher frequency of germline pathogenic mutations. , , and somatic mutations associated with higher germline pathogenic mutations. Our description of germline mutations in the Chinese PCa patients provides more reference data for the precise diagnosis and treatment of Chinese PCa patients.