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伴有前列腺癌的家族性乳腺癌中的BRCA2突变:一例病例报告及文献综述

BRCA2 mutations in familial breast cancer with prostate cancer: a case report and literature review.

作者信息

Liu Zhengsheng, Huang Qianhao, Ding Meixuan, Wang Tao, Chen Yuedong, Zhang Kaiyan

机构信息

The Key Laboratory of Urinary Tract Tumors and Calculi, Department of Urology, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.

The School of Clinical Medicine, Fujian Medical University, Fuzhou, China.

出版信息

Front Oncol. 2024 Sep 19;14:1428849. doi: 10.3389/fonc.2024.1428849. eCollection 2024.

Abstract

Prostate cancer (PCa) is the second most common tumor in men globally. Its etiology has been attributed to multiple factors, including age and ethnicity, with family history identified as a significant risk factor. The role of family history in prostate cancer risk appears to be more extensive than previously thought, with evidence suggesting that prostate cancer and breast cancer may occur concurrently within families. BRCA2 mutations have been linked to an increased risk of prostate cancer, particularly in patients diagnosed with early-onset disease. It is estimated that BRCA2 mutations account for approximately 5% of familial prostate cancer cases. It is noteworthy that cases of prostate cancer in patients with BRCA2 mutations are rare in clinical practice. Here we report a case of prostatitis carcinoma with a mutation in the BRCA2 gene in a patient who underwent robotic-assisted radical prostatectomy for prostatitis carcinoma after medication was not effective. Genetic testing of him, his son, and his daughter showed that they all had mutations in this gene, and it is noteworthy that the type of BRCA2 mutation in his son has never been reported before, which is rare in clinical practice.

摘要

前列腺癌(PCa)是全球男性中第二常见的肿瘤。其病因归因于多种因素,包括年龄和种族,家族史被确定为一个重要的风险因素。家族史在前列腺癌风险中的作用似乎比以前认为的更为广泛,有证据表明前列腺癌和乳腺癌可能在家族中同时发生。BRCA2突变与前列腺癌风险增加有关,特别是在诊断为早发性疾病的患者中。据估计,BRCA2突变约占家族性前列腺癌病例的5%。值得注意的是,BRCA2突变患者的前列腺癌病例在临床实践中很少见。在此,我们报告一例在药物治疗无效后接受机器人辅助根治性前列腺切除术的前列腺癌患者,其BRCA2基因发生突变。对他本人、他的儿子和女儿进行基因检测显示,他们都有该基因突变,值得注意的是,他儿子的BRCA2突变类型以前从未报道过,在临床实践中很罕见。

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