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ENGLISH ABSTRACT
前列腺癌同源重组修复基因检测及变异解读专家共识
中华医学会病理学分会
中华医学会泌尿外科学分会
国家病理质控中心
作者及单位信息
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DOI： 10.3760/cma.j.cn112151-20220310-00162
Expert consensus on homologous recombination repair gene testing and variant interpretation in prostate cancer
Chinese Society of Pathology
Chinese Medical Association
Chinese Urological Association National Pathology Quality Control Center
Liang Zhiyong
Huang Jian
Authors Info & Affiliations
Chinese Society of Pathology
Chinese Medical Association
Chinese Urological Association National Pathology Quality Control Center
Liang Zhiyong
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China
Huang Jian
Department of Urology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou 510630, China
·
DOI： 10.3760/cma.j.cn112151-20220310-00162
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摘要

同源重组修复是高度保真的DNA双链断裂的修复方式。同源重组修复基因检测对于前列腺癌患者的肿瘤遗传风险评估、治疗决策、预后判断等方面均具有重要意义，涉及适用人群、样本选择、样本处理要求、变异解读与报告等诸多环节。为指导和规范前列腺癌同源重组修复基因检测，中华医学会病理学分会、中华医学会泌尿外科学分会和国家病理质控中心联合制定本共识。

引用本文

中华医学会病理学分会,中华医学会泌尿外科学分会,国家病理质控中心. 前列腺癌同源重组修复基因检测及变异解读专家共识[J]. 中华病理学杂志,2022,51(10)：941-949.

DOI:10.3760/cma.j.cn112151-20220310-00162

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DNA损伤应答是机体应对各种内源性或外源性因素造成的DNA损伤的修复系统，其中同源重组修复（homologous recombination repair，HRR）是高度保真的DNA双链断裂（double-strand break，DSB）的修复方式。国内外指南已推荐转移性去势抵抗前列腺癌（metastatic castration-resistant prostate cancer，mCRPC）患者进行肿瘤HRR基因检测以指导临床治疗。前列腺癌HRR基因检测涉及多个基因、多种变异类型，主要采用下一代测序（next generation sequencing，NGS）技术。目前，前列腺癌HRR基因检测在产品设计、质控、检测过程、结果解读等环节仍然存在诸多挑战，临床检测质量参差不齐。基于此，中华医学会病理学分会、中华医学会泌尿外科学分会和国家病理质控中心共同制定本共识，以规范前列腺癌HRR基因检测流程，提升检测质量。
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备注信息
A
梁智勇，中国医学科学院 北京协和医学院 北京协和医院病理科，北京100730，Email： nc.defhcabmupyzgnail
B
黄健，中山大学孙逸仙纪念医院泌尿外科，广州 510630，Email： mocdef.3ab61123zanaijgnauH
C

中华医学会病理学分会, 中华医学会泌尿外科学分会, 国家病理质控中心. 前列腺癌同源重组修复基因检测及变异解读专家共识[J]. 中华病理学杂志, 2022, 51(10): 941-949. DOI: 10.3760/cma.j.cn112151-20220310-00162.

D

执笔人：吴焕文（中国医学科学院 北京协和医学院 北京协和医院病理科，北京100730）；何旺（中山大学孙逸仙纪念医院泌尿外科，广州 510630）

E
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