The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients. Issue 8 (1st October 2017)

• Record Type: Journal Article
• Authors: Wu, Xiaohua; Wu, Lingying; Kong, Beihua; Liu, Jihong; Yin, Rutie; Wen, Hao; Li, Ning; Bu, Hualei; Feng, Yanling; Li, Qingli; Lu, Xuesong; Wei, Jia; Zhu, Xuehua; Mills, John; Ellison, Gillian; Gutjahr, Thorsten; Liu, Yuzhen
• Is Part Of: International journal of gynecological cancer. Volume 27:Issue 8(2017)
• Page Start: 1650
• Page End: 1657
• Publication Date: 2017-10-01
• Subjects: 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; Generative organs, Female -- Cancer -- Periodicals; 616.99465
• DOI: 10.1097/IGC.0000000000001065
• Languages: English
• ISSNs: 1048-891X

Abstract

Abstract : Objective: Subjects with germline BRCA1/2 mutations (g BRCA m) 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 g BRCA m prevalence and characteristics in Chinese ovarian cancer patients. Methods: We conducted the first nationwide multicenter g BRCA m prevalence study in China. Eight hundred twenty-six unselected ovarian cancer patients from 5 clinical centers were enrolled and tested for g BRCA m 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 g BRCA m 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 g BRCA m status and family history ( P < 0.001), g BRCA m status, and tumor stage ( P = 0.02). A numerical higher prevalence of g BRCA m 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 gBRCA m status regardless of family history and histopathology.