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Int J Gynecol Cancer. 2017 Oct;27(8):1650-1657. doi: 10.1097/IGC.0000000000001065.

The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients.

Author information

1
*Department of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Shanghai; †Department of Gynecological Oncology, Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing; ‡Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan; §Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou; ∥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 ¶AstraZeneca Research & Development China, Shanghai, China; and #Personalized Healthcare & Biomarkers, AstraZeneca, Cambridge, United Kingdom.

Abstract

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.

PMID:
28692638
DOI:
10.1097/IGC.0000000000001065
[Indexed for MEDLINE]

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