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The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients
  1. Xiaohua Wu, MD*,
  2. Lingying Wu, MD,
  3. Beihua Kong, MD,
  4. Jihong Liu, MD§,
  5. Rutie Yin, MD,
  6. Hao Wen, MD*,
  7. Ning Li, MD,
  8. Hualei Bu, MD,
  9. Yanling Feng, MD§,
  10. Qingli Li, MD,
  11. Xuesong Lu, PhD,
  12. Jia Wei, PhD,
  13. Xuehua Zhu, PhD,
  14. John Mills, PhD#,
  15. Gillian Ellison, PhD#,
  16. Thorsten Gutjahr, PhD# and
  17. Yuzhen Liu, PhD#
  1. *Department of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Shanghai;
  2. Department of Gynecological Oncology, Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing;
  3. Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan;
  4. §Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou;
  5. Department of Gynaecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Chengdu; and
  6. AstraZeneca Research& Development China, Shanghai, China; and
  7. #Personalized Healthcare& Biomarkers, AstraZeneca, Cambridge, United Kingdom.
  1. Address correspondence and reprint requests to Xiaohua Wu, MD, Department of Gynecologic Oncology, Fudan University Shanghai Cancer Center, 270 DongAn Rd, Shanghai, China. E-mail:


Objective Subjects with germline BRCA1/2 mutations (gBRCAm) have an increased risk of developing ovarian cancer and enhanced sensitivity to platinum-containing agents and PARP (poly[ADP-ribose] polymerase) inhibitors. BRCA mutations in Asian patients are poorly understood compared with other populations. We aimed to investigate gBRCAm prevalence and characteristics in Chinese ovarian cancer patients.

Methods We conducted the first nationwide multicenter gBRCAm prevalence study in China. Eight hundred twenty-six unselected ovarian cancer patients from 5 clinical centers were enrolled and tested for gBRCAm status. Medical data including age, family history, previous treatments, clinical diagnosis, histopathologic diagnosis, tumor grade, platinum sensitivity, and CA-125 test result were reviewed and collected.

Results Prevalence rate or gBRCAm was determined as 28.5%, with 20.8% of patients harboring BRCA1 mutation and 7.6% harboring BRCA2 mutation. The group had a higher percentage of high-grade serous (73.0%), late-stage (III and IV [85.5%]) patients and a younger median age at diagnosis (52 years) compared with other reported studies. Twnety-seven BRCA1 and 17 BRCA2 mutations have not been reported previously in public databases or the literature. Statistically significant correlations were observed between gBRCAm status and family history (P < 0.001), gBRCAm status, and tumor stage (P = 0.02). A numerical higher prevalence of gBRCAm in patients with high-grade serous histopathology (30.9%), platinum-sensitive phenotype (34%), and late-line chemotherapy was observed.

Conclusions Germline BRCA1/2 mutations is common in Chinese ovarian cancer patients. This study implies that all ovarian patients should be tested for gBRCAm status regardless of family history and histopathology.

  • BRCA
  • Germline
  • Mutation
  • Ovarian cancer
  • Prevalence
  • gBRCAm-Germline BRCA mutations
  • PARP-Poly(ADP-ribose) polymerase
  • BER-Base excision repair
  • NGS-Next-generation sequencing
  • VUS-Variant of uncertain significance
  • TFI-Treatment-free interval

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  • This study is sponsored by AstraZeneca.

  • Y.L., J.W., X.L., T.G., G.E., and X.Z. are AstraZeneca employees. Y.L., T.G., and G.E. are also AstraZeneca stock owners. The other authors declare no conflicts of interest.

  • Supplemental digital content is available for this article. Direct URL citation appears in the printed text and is provided in the HTML and PDF versions of this article on the journal’s Web site (