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

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机构: [1]Fudan Univ, Shanghai Canc Ctr, Dept Gynecol Oncol, 270 DongAn Rd, Shanghai, Peoples R China; [2]Peking Union Med Coll, Canc Hosp, Dept Gynecol Oncol, Beijing, Peoples R China; [3]Chinese Acad Med Sci, Beijing, Peoples R China; [4]Shandong Univ, Qilu Hosp, Dept Obstet & Gynecol, Jinan, Shandong, Peoples R China; [5]Sun Yat Sen Univ, Canc Ctr, State Key Lab Oncol South China, Collaborat Innovat Ctr Canc Med, Guangzhou, Guangdong, Peoples R China; [6]Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ,Dept Gynaecol, Chengdu, Sichuan, Peoples R China; [7]AstraZeneca Res & Dev China, Shanghai, Peoples R China; [8]AstraZeneca, Personalized Healthcare & Biomarkers, Cambridge, England
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关键词: BRCA Germline Mutation Ovarian cancer Prevalence

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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 17BRCA2mutations 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.

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出版当年[2017]版:
大类 | 3 区 医学
小类 | 3 区 妇产科学 4 区 肿瘤学
最新[2023]版:
大类 | 2 区 医学
小类 | 3 区 妇产科学 3 区 肿瘤学
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第一作者机构: [1]Fudan Univ, Shanghai Canc Ctr, Dept Gynecol Oncol, 270 DongAn Rd, Shanghai, Peoples R China;
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通讯机构: [1]Fudan Univ, Shanghai Canc Ctr, Dept Gynecol Oncol, 270 DongAn Rd, Shanghai, Peoples R China;
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