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A novel germline BRCA2 mutation in a Chinese patient with prostate cancer sensitive to platinum chemotherapy: a case report

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机构: [1]Department of Urology, Sun Yat-Sen University Cancer Center, Guangzhou510060, China [2]Department of Urology, The Guangdong ProvincialHospital of Traditional Chinese Medicine, Guangzhou 510000, China [3]GloriousMed Clinical Laboratory (Shanghai) Co., Ltd., Shanghai 200120, China.
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关键词: Prostate cancer BRCA2 Family history Platinum chemotherapy

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Background Germline BRCA2 mutation is associated with an aggressive prostate cancer phenotype and indicates higher risk for hereditary cancer. Recently, numerous studies have attempted to identify the genomic landscape of prostate cancer to better understand the genomic drivers of this disease and look for the molecular targets to guide treatment selection. Case presentation We report a 67-year-old patient diagnosed with prostate cancer who experienced rapid disease progression after androgen deprivation therapy and subsequent docetaxel treatment. The patient had a strong family history of malignancy as his mother was diagnosed with breast cancer and his father was died of lung cancer. Next generation sequencing demonstrated a novel pathogenic germline BRCA2 mutation (p.Gly2181Glufs*10) in the patient. His mother with breast cancer and his son were found to have the same BRCA2 mutation. The patient experienced impressive and durable responses to carboplatin treatment. Conclusions This case demonstrated that the carboplatin could have a dramatic antitumor effect on patients with prostate cancer with germline BRCA2 mutations and family history will help to ensure that patients and their families can be provided with proper genetic counseling.

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出版当年[2020]版:
大类 | 4 区 医学
小类 | 4 区 泌尿学与肾脏学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 泌尿学与肾脏学
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出版当年[2019]版:
Q3 UROLOGY & NEPHROLOGY
最新[2023]版:
Q3 UROLOGY & NEPHROLOGY

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第一作者机构: [1]Department of Urology, Sun Yat-Sen University Cancer Center, Guangzhou510060, China
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