{"id":8971,"date":"2020-12-17T12:28:59","date_gmt":"2020-12-17T04:28:59","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100017870&idx=1&sn=dd452f53c9d82b0418fb441a4f3cb8c7&chksm=6b7174795c06fd6fc968ffebfea26b3dd5ffca5edd04212353950a54899ffe251ac467826bae#rd"},"modified":"2026-04-08T09:34:58","modified_gmt":"2026-04-08T01:34:58","slug":"575052","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2020\/12\/17\/575052\/","title":{"rendered":"\u524d\u5217\u817a\u764c\u7cbe\u51c6\u533b\u7597\u5f00\u542f\uff0cPARP\u6291\u5236\u5242\u7684\u4f34\u968f\u8bca\u65ad\u6807\u51c6\u5316\u662f\u524d\u63d0"},"content":{"rendered":"

<\/p>\n

\u3010\u5bfc\u8bed\u30112020\u5e74\uff0cFDA\u8fde\u7eed\u6279\u51c6\u591a\u6b3ePARP\u6291\u5236\u5242\uff0c\u5f00\u542f\u4e86\u524d\u5217\u817a\u764c\u7684\u7cbe\u51c6\u6cbb\u7597\u65f6\u4ee3\uff0c\u7cbe\u51c6\u6cbb\u7597\u7684\u524d\u63d0\u662f\u7cbe\u51c6\u68c0\u6d4b\u3002\u76ee\u524d\uff0cPARP\u6291\u5236\u5242\u7684\u5e38\u89c1\u5206\u5b50\u751f\u7269\u6807\u5fd7\u7269\u5df2\u7ecf\u4ece BRCA1\/2 \u53d1\u5c55\u5230 HRR\/HRD\uff0c\u56fd\u5185\u76f8\u5173\u68c0\u6d4b\u521a\u8d77\u6b65\uff0c\u6807\u51c6\u5316\u5efa\u8bbe\u662f\u4e00\u4ef6\u8feb\u5728\u7709\u776b\u7684\u5de5\u4f5c\u3002<\/div>\n
\u00a0<\/div>\n
\u6587\u7ae0 | \u83c1\u826f\u57fa\u56e0\u7f16\u8f91 | \u7f57\u6e58<\/div>\n
\u5173\u952e\u8bcd | \u57fa\u56e0\u68c0\u6d4b \u6807\u51c6\u54c1<\/div>\n
\u00a0<\/div>\n
HRR\/HRD\u68c0\u6d4b\u53ef\u6269\u5c55PARP\u6291\u5236\u5242\u83b7\u76ca\u4eba\u7fa4<\/div>\n
\u4e0a\u76ae\u6027\u5375\u5de2\u764c\u4e2d\uff0c17%\u7684\u60a3\u8005\u53ef\u68c0\u51fa\u80da\u7cfbBRCA1\/2\u7a81\u53d8\uff0c\u4f53\u7ec6\u80deBRCA1\/2\u68c0\u6d4b\u53ef\u6bd4\u80da\u7cfbBRCA1\/2\u68c0\u6d4b\u589e\u52a0\u7ea67%\u7684\u68c0\u51fa\u7387\uff0c\u8fd9\u4e9b\u60a3\u8005\u90fd\u662fPARP\u6291\u5236\u5242\u6cbb\u7597\u7684\u4f18\u52bf\u4eba\u7fa4\u3002<\/div>\n
\u6700\u8fd1\uff0c\u5927\u591a\u6570\u4e0ePARP\u6291\u5236\u5242\u5e94\u7528\u76f8\u5173\u7684\u4e3b\u8981\u4e34\u5e8a\u8bd5\u9a8c\u5747\u7eb3\u5165\u4e86HRD\u68c0\u6d4b\u9879\u76ee\u5e76\u4f5c\u4e3a\u5206\u5c42\u5206\u6790\u7684\u6307\u6807\uff0c\u5e76\u53d1\u73b0HRD\u9633\u6027\u60a3\u8005\u4e5f\u80fd\u83b7\u76ca\u4e8ePARP\u6291\u5236\u5242\u6cbb\u7597\u3002<\/div>\n
\u00a0<\/div>\n
2020\u5e745\u670811\u65e5\uff0cFDA\u6279\u51c6\u4e86\u5965\u62c9\u5e15\u5229\u8054\u5408\u8d1d\u4f10\u73e0\u5355\u6297\u7528\u4e8eHRD\u9633\u6027\u4eba\u7fa4\u4e00\u7ebf\u7ef4\u6301\u6cbb\u7597\u7684\u9002\u5e94\u75c7\u3002HRD\u9633\u6027\u60a3\u8005\u5360\u5375\u5de2\u764c\u603b\u4eba\u7fa4\u7684\u5927\u7ea650%\uff0c\u56e0\u6b64HRD\u68c0\u6d4b\u5927\u5927\u6269\u5c55\u4e86PARP\u6291\u5236\u5242\u7684\u53d7\u76ca\u4eba\u7fa4\u3002<\/div>\n
\u00a0<\/div>\n
\u4ece2020\u5e745\u6708\u5f00\u59cb\uff0cFDA\u5148\u540e\u6279\u51c6\u4e86\u4ee5\u4e0b2\u6b3ePARP\u6291\u5236\u5242\uff1a<\/div>\n
\u5362\u5361\u5e15\u5229\uff08Rucaparib\uff09\u7528\u4e8e\u6cbb\u7597\u643a\u5e26\u6709\u5bb3BRCA\u57fa\u56e0\u7a81\u53d8\uff08\u80da\u7cfb\u548c\/\u6216\u4f53\u7cfb\uff09\u7684\u8f6c\u79fb\u6027\u53bb\u52bf\u62b5\u6297\u6027\u524d\u5217\u817a\u764c\uff08mCRPC\uff09\u6210\u4eba\u60a3\u8005\uff0c\u8fd9\u4e5f\u662f\u524d\u5217\u817a\u764c\u9886\u57df\u83b7\u6279\u7684\u7b2c\u4e00\u6b3ePARP\u6291\u5236\u5242\u3002<\/div>\n
\u5965\u62c9\u5e15\u5229\uff08Olaparib\uff09\u7528\u4e8e\u6cbb\u7597\u643a\u5e26\u6709\u5bb3\u6216\u53ef\u80fd\u6709\u5bb3\u7684HRR\u57fa\u56e0\u7a81\u53d8\uff08\u80da\u7cfb\u6216\u4f53\u7cfb\uff09\u7684mCRPC\u6210\u4eba\u60a3\u8005\u3002<\/div>\n
\u00a0<\/div>\n
PARP\u6291\u5236\u5242\u5728mCRPC\u60a3\u8005\u4e2d\u7684\u751f\u7269\u6807\u5fd7\u7269\u4fbf\u4eceBRCA1\/2\u4e24\u4e2a\u57fa\u56e0\u62d3\u5bbd\u5230\u4e86HRR\u4e00\u7cfb\u5217\u57fa\u56e0\uff08\u5305\u62ecBRCA1\/2\uff09\uff0c\u5373\u4ece12%\u7684mCRPC\u4eba\u7fa4\u6269\u5c55\u523025%\u7684mCRPC\u4eba\u7fa4\uff0cPARP\u6291\u5236\u5242\u7684\u83b7\u76ca\u4eba\u7fa4\u4e5f\u8fd1\u4e4e\u589e\u52a0\u4e86\u4e00\u500d\u3002<\/div>\n
\u00a0<\/div>\n
FDA\u6279\u51c6\u7684HRR\/HRD\u68c0\u6d4b<\/div>\n
FDA\u5728\u6279\u51c6\u5965\u62c9\u5e15\u5229\u7684\u540c\u65f6\u5206\u522b\u6279\u51c6\u4e86FMI\uff08Foundation Medicine, Inc.\uff09\u7684 FoundationOne CDx\uff08F1CDx\uff09\u53ca Myriad \u7684 BRACAnalysis CDx \u4f5c\u4e3a\u5176\u4f34\u968f\u8bca\u65ad\u4ea7\u54c1\uff0c\u5206\u522b\u68c0\u6d4b\u7ec4\u7ec7HRR\u57fa\u56e0\u7a81\u53d8\u53ca\u8840\u6db2gBRCA1\/2\u57fa\u56e0\u7a81\u53d8\u3002<\/div>\n
\u00a0<\/div>\n
\u76ee\u524d\uff0c\u5728HRD\u68c0\u6d4b\u4e0a\u7ecf\u8fc7\u4e34\u5e8a\u9a8c\u8bc1\u4e14\u83b7FDA\u6279\u51c6\u7684\u53ea\u6709\u4e24\u4e2a\u4ea7\u54c1\uff0cMyriad Genetics myChoice Test\u548cFoundationOne CDx\uff08FDA\u6279\u51c6\u7528\u4e8e\u68c0\u6d4bgLOH\uff09\u30022020\u5e744\u670822\u65e5\uff0cFoundationOne\u00aeCDx\uff08F1CDx\uff09\u5375\u5de2\u764c\u62a5\u544a\u4e2d\u589e\u52a0\u57fa\u56e0\u7ec4\u6742\u5408\u6027\u7f3a\u5931\uff08gLOH\uff09\u68c0\u6d4b\u529f\u80fd\uff0c\u6210\u4e3a\u56fd\u5185\u9996\u4e2a\u53ef\u4ee5\u5224\u65ad\u540c\u6e90\u91cd\u7ec4\u4fee\u590d\u7f3a\u9677\uff08HRD\uff09\u7684\u5546\u7528NGS\u4ea7\u54c1\uff0c\u7136\u800cMyriad Genetics myChoice Test\u5728\u56fd\u5185\u5c1a\u4e0d\u53ef\u53ca\u3002<\/div>\n
\u00a0<\/div>\n
\u56fd\u5185HRD\u68c0\u6d4b\u4ea7\u54c1\u5219\u521a\u521a\u8d77\u6b65\uff0c\u5c1a\u6ca1\u6709NMPA\u6279\u51c6\u7684\u4ea7\u54c1\uff0c\u4e0d\u8fc7\u5404\u5927\u80bf\u7624\u57fa\u56e0\u68c0\u6d4b\u516c\u53f8\u4e5f\u5728\u79ef\u6781\u5e03\u5c40HRD\u4ea7\u54c1\u7684\u5f00\u53d1\u4e0e\u7533\u62a5\u3002<\/div>\n
\u00a0<\/div>\n
HRR\/HRD\u68c0\u6d4b\u6700\u65b0\u76f8\u5173\u6307\u5357\u548c\u5171\u8bc6<\/div>\n
1. \u00a0\u57282020\u524d\u5217\u817a\u764cNCCN\u6307\u5357Principles of Genetics\u90e8\u5206\uff0c\u660e\u786e\u63a8\u8350\u8f6c\u79fb\u6027\u524d\u5217\u817a\u764c\u60a3\u8005\u8fdb\u884c\u4f53\u7ec6\u80de\u53d8\u5f02\u7684\u68c0\u6d4b\uff0c\u5305\u542b\u7684HRR\u57fa\u56e0\u6709BRCA1\u3001BRCA2\u3001ATM\u3001PALB2\u3001FANCA\u3001RAD51D\u3001CHEK2\u548cCDK12\u3002\u5bf9\u4e8e\u5c40\u90e8\u665a\u671f\u7684\u60a3\u8005\u4e5f\u53ef\u4ee5\u8003\u8651\u8fdb\u884cHRR\u57fa\u56e0\u68c0\u6d4b\u3002<\/div>\n
\u00a0<\/div>\n
2. \u300a\u4e2d\u56fd\u524d\u5217\u817a\u764c\u60a3\u8005\u57fa\u56e0\u68c0\u6d4b\u4e13\u5bb6\u5171\u8bc6\uff082020\u5e74\u7248\uff09\u300b\u6307\u51fa\u5bf9\u4e8e\u6240\u6709mCRPC\u60a3\u8005\uff0c\u63a8\u8350\u8fdb\u884c\u81f3\u5c11\u5305\u542bHRR\u57fa\u56e0\u80da\u7cfb\u53ca\u4f53\u7cfb\u53d8\u5f02\u7684\u68c0\u6d4b\uff0c\u5e76\u53ef\u4ee5\u8003\u8651\u884c\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u6027\uff08microsatellite instability\uff0cMSI\uff09\u548cDNA\u9519\u914d\u4fee\u590d\u7f3a\u9677\uff08DNA mismatch repair deficiency\uff0cdMMR\uff09\u68c0\u6d4b\u3002<\/div>\n
\u00a0<\/div>\n
3.\u00a0 \u57282020\u5e74\u6700\u65b0\u7248NCCN\u5375\u5de2\u764c\u6307\u5357\u4e2d\u63d0\u5230\uff0c\u5bf9\u590d\u53d1\u5375\u5de2\u764c\u60a3\u8005\u9664\u8fdb\u884cBRCA1\/2\u7a81\u53d8\u548c\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u6216DNA\u9519\u914d\u4fee\u590d\uff08\u82e5\u65e2\u5f80\u672a\u884c\u68c0\u6d4b\uff09\u5916\uff0c\u8fd8\u53ef\u8bc4\u4f30HRD\u72b6\u6001\u3002\u82e5\u65e0BRCA1\/2\u7a81\u53d8\uff0cHRD\u68c0\u6d4b\u53ef\u4ee5\u63d0\u4f9b\u4fe1\u606f\u5e2e\u52a9\u5224\u65ad\u60a3\u8005\u4ecePARP\u6291\u5236\u5242\u6cbb\u7597\u83b7\u76ca\u7684\u7a0b\u5ea6\u3002<\/div>\n
\u00a0<\/div>\n
4. \u300a2020\u7248\u5375\u5de2\u4e0a\u76ae\u6027\u764c\u7ef4\u6301\u6cbb\u7597\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6\u300b\u4e5f\u63a8\u8350\uff0c\u521d\u6cbb\u5375\u5de2\u764c\u60a3\u8005\u5728\u83b7\u5f97\u75c5\u7406\u786e\u8bca\u540e\uff0c\u5728\u6761\u4ef6\u5141\u8bb8\u60c5\u51b5\u4e0b\u8bc4\u4f30HRD\u72b6\u6001\u3002\u8fd9\u65e0\u7591\u5bf9\u4e34\u5e8a\u68c0\u6d4b\u63d0\u51fa\u4e86\u65b0\u7684\u8981\u6c42\uff0c\u9700\u8981\u5177\u6709\u4e34\u5e8a\u6307\u5bfc\u610f\u4e49\u7684HRD\u68c0\u6d4b\u65b9\u6cd5\uff0c\u5e2e\u52a9\u4e34\u5e8a\u533b\u751f\u4e3a\u60a3\u8005\u5236\u5b9a\u4e2a\u4f53\u5316\u7684\u6cbb\u7597\u65b9\u6848\u3002<\/div>\n
\u00a0<\/div>\n
5. \u00a02020\u670811\u670813\u65e5\u53d1\u5e03\u7684\u300a\u4e0a\u76ae\u6027\u5375\u5de2\u764cPARP\u6291\u5236\u5242\u76f8\u5173\u751f\u7269\u6807\u5fd7\u7269\u68c0\u6d4b\u7684\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6\u300b\u4e2d\u4e5f\u8868\u793a\uff1aHRD\u4f5c\u4e3a\u5375\u5de2\u764c\u6cbb\u7597\u76f8\u5173\u7684\u91cd\u8981\u751f\u7269\u6807\u5fd7\u7269\uff0c\u5bf9\u542b\u94c2\u5316\u7597\u548cPARP\u6291\u5236\u5242\u53cd\u5e94\u9ad8\u5ea6\u654f\u611f\uff0c\u65b0\u8bca\u65ad\u7684\u5375\u5de2\u764c\u60a3\u8005\uff0c\u5e94\u79ef\u6781\u8fdb\u884cHRD\u7b49\u76f8\u5173\u751f\u7269\u6807\u5fd7\u7269\u7684\u68c0\u6d4b\u3002<\/div>\n
\u00a0<\/div>\n
\u63a8\u52a8\u56fd\u5185HRR\/HRD\u68c0\u6d4b\u6807\u51c6\u5316\u5efa\u8bbe\u8feb\u5728\u7709\u776b<\/div>\n
PARP\u6291\u5236\u5242\u5f00\u542f\u4e86\u524d\u5217\u817a\u764c\u7684\u7cbe\u51c6\u6cbb\u7597\u65f6\u4ee3\uff0c\u800cHRR\u7684\u51c6\u786e\u68c0\u6d4b\u662f\u4fdd\u8bc1\u7cbe\u51c6\u7528\u836f\u7684\u524d\u63d0\u3002\u7edf\u8ba1\u6570\u636e\u663e\u793a\u6211\u56fd\u524d\u5217\u817a\u764c\u60a3\u80055\u5e74\u751f\u5b58\u7387\u4ec5\u4e3a69.2%\uff0c\u800c\u7f8e\u56fd\u524d\u5217\u817a\u764c\u60a3\u8005\u76845\u5e74\u751f\u5b58\u7387\u8fbe\u5230\u4e8699%\uff0c\u6211\u56fd\u7684\u524d\u5217\u817a\u764c\u7cbe\u51c6\u6cbb\u7597\u4ecd\u7136\u662f\u4efb\u91cd\u800c\u9053\u8fdc\u3002<\/div>\n
\u00a0<\/div>\n
\u4eca\u5e74\u7531\u4e2d\u56fd\u5065\u5eb7\u4fc3\u8fdb\u4e0e\u6559\u80b2\u534f\u4f1a\u53d1\u8d77\u7684\u201c\u7cbe\u6ccc\u524d\u884c\u66a8HRR\u68c0\u6d4b\u6821\u51c6\u9879\u76ee\u201d\u4e5f\u65e8\u5728\u5e0c\u671b\u901a\u8fc7HRR\u68c0\u6d4b\u6821\u51c6\u9879\u76ee\u63a8\u52a8\u76f8\u5173\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u7684\u5b8c\u5584\u3001\u68c0\u6d4b\u6807\u51c6\u7684\u5efa\u7acb\uff0c\u540c\u65f6\u547c\u5401\u4e34\u5e8a\u3001\u75c5\u7406\u3001\u68c0\u9a8c\u4e13\u5bb6\u5171\u540c\u534f\u4f5c\uff0c\u52a9\u529b\u524d\u5217\u817a\u764c\u7cbe\u51c6\u8bca\u7597\u3002<\/div>\n
\u00a0<\/div>\n
HRD\u68c0\u6d4b\u5bf9\u4e8e\u6307\u5bfc\u5375\u5de2\u764c\u7684\u6cbb\u7597\u5341\u5206\u91cd\u8981\uff0c\u4e34\u5e8a\u5bf9HRD\u68c0\u6d4b\u7684\u9700\u6c42\u5c06\u4f1a\u8d8a\u6765\u8d8a\u5927\uff0cHRD\u68c0\u6d4b\u76ee\u524d\u4e0d\u8bba\u5728\u56fd\u5185\u5916\u5747\u65e0\u7edf\u4e00\u6807\u51c6\uff0c\u53ef\u4ee5\u5f00\u5c55\u68c0\u6d4b\u7684\u5b9e\u9a8c\u5ba4\u4e5f\u5c48\u6307\u53ef\u6570\u3002\u867d\u7136\u76ee\u524d\u56fd\u5185\u6709\u5f88\u591a\u533b\u9662\u548c\u7b2c\u4e09\u65b9\u53ef\u4ee5\u63d0\u4f9bBRAC\u57fa\u56e0\u68c0\u6d4b\u670d\u52a1\uff0c\u4f46\u6bcf\u4e2a\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u8d28\u91cf\u4e0d\u4e00\u81f4\uff0c\u90fd\u4f1a\u5f71\u54cd\u5230\u6700\u7ec8\u7ed3\u679c\u7684\u51c6\u786e\u6027\uff0c\u4e3a\u4e34\u5e8a\u8bca\u7597\u6d3b\u52a8\u5e26\u6765\u6781\u5927\u56f0\u6270\u3002HRD\u7684\u68c0\u6d4b\u53ca\u6807\u51c6\u5316\u5efa\u8bbe\u662f\u4e00\u4ef6\u8feb\u5728\u7709\u776b\u7684\u5de5\u4f5c\u3002<\/div>\n
\u00a0<\/div>\n
\u83c1\u826f\u89e3\u51b3\u65b9\u6848>>HRR\u6807\u51c6\u54c1<<\u00a0<\/div>\n
\u83c1\u826f\u57fa\u56e0HRR\u6807\u51c6\u54c1\u5305\u542b\u4e0eHRR\u901a\u8def\u76f8\u5173\u7684\u57fa\u56e0\u7a81\u53d8\uff0c\u53ef\u5b9a\u5236gDNA\uff0cctDNA \u6216\u8005 FFPE\u7b49\u4ea7\u54c1\u5f62\u5f0f\uff0c\u662fHRR\u68c0\u6d4b\u8bd5\u5242\u76d2\u6ce8\u518c\u62a5\u8bc1\u53caHRR\u68c0\u6d4b\u65e5\u5e38\u8d28\u63a7\u7406\u60f3\u7684\u53c2\u8003\u54c1\u3002\u00a0<\/div>\n\n
\n
\"RmFicvQBAkgB41ym1FesiaDibEYBXw6HhViaHZTaL73Ix56K368g8tlGsV1tRHX8bLEJC24I31lxTRdLYdKBu3zxzQ\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
\u4ea7\u54c1\u7279\u70b9<\/div>\n
\u7ec6\u80de\u7cfb\u6765\u6e90\uff1a\u66f4\u63a5\u8fd1\u4e34\u5e8a\u6837\u672c\u00a0<\/div>\n
\u8986\u76d6HRR\u901a\u8def\u5927\u90e8\u5206\u57fa\u56e0\uff1a>24 \u4e2aHRR\u76f8\u5173\u57fa\u56e0\uff0c>170\u00a0\u4e2a\u7a81\u53d8\u4f4d\u70b9<\/div>\n
\u53ef\u5b9a\u5236Pathogenic\uff0clikely Pathogenic, VUS, likely benign, benign\u591a\u79cd\u4e34\u5e8a\u610f\u4e49\u7684\u7a81\u53d8\u4f4d\u70b9<\/div>\n
\u7075\u6d3b\u7684\u5b9a\u5236\u65b9\u6848\uff1a\u53ef\u6df7\u5408\u7279\u5b9a\u7684\u7a81\u53d8\u4f4d\u70b9\uff0c\u53ca\u9009\u62e9\u5bf9\u5e94\u7a81\u53d8\u9891\u7387\u81f3\u4e00\u4e2a\u4ea7\u54c1<\/div>\n
\u7a81\u53d8\u9891\u7387\u53ef\u5b9a\u5236\u8303\u56f4\u5e7f\uff1a0%-100%<\/div>\n
\u591a\u79cd\u4ea7\u54c1\u5f62\u5f0f\u53ef\u9009\uff1agDNA\u3001ctDNA\u3001FFPE<\/div>\n
\u4f4d\u70b9\u7ecfddPCR\u9a8c\u8bc1\uff1a\u7edd\u5bf9\u5b9a\u91cfAF<\/div>\n
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\u00a0>>HRD\u6807\u51c6\u54c1<<\u00a0<\/div>\n
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\u5982\u679cCDx Panel\u4e2dHRD\u72b6\u6001\u662f\u901a\u8fc7\u68c0\u6d4b\u57fa\u56e0\u7ec4\u7622\u75d5\uff0c\u4e5f\u53ef\u9009\u62e9\u83c1\u826f\u63d0\u4f9b\u7684\u901a\u8fc7HRD \u57fa\u56e0\u7ec4\u7622\u75d5\u7684\u68c0\u6d4b\u65b9\u6cd5\u6765\u8bc4\u4f30HRD\u72b6\u6001\u7684\u6807\u51c6\u54c1\u3002\u4f8b\u5982\u901a\u8fc7LOH\uff0cLST\uff0cTAI\u7684\u7efc\u5408\u8bc4\u5206\uff0c\u6765\u8ba1\u7b97HRD \u5206\u503c\u3002\u540c\u65f6\uff0c\u83c1\u826f\u57fa\u56e0\u4e5f\u53ef\u63d0\u4f9bHRD panel\u6027\u80fd\u9a8c\u8bc1\u7684\u5404\u79cd\u53c2\u8003\u54c1\uff0c\u4f8b\u5982\u7279\u5f02\u6027\uff0c\u7075\u654f\u6027\uff0c\u7cbe\u5bc6\u5ea6\uff0c\u6297\u5e72\u6270\u80fd\u529b\u9a8c\u8bc1\u53c2\u8003\u54c1\u3002<\/div>\n
<\/div>\n
\u4ea7\u54c1\u7279\u70b9<\/div>\n
\u901a\u8fc7\u5f00\u6e90\u7684\u751f\u4fe1\u6d41\u7a0b\u5bf9LOH\uff0cLST\uff0cTAI\u7684\u7efc\u5408\u8bc4\u5206<\/div>\n
HRD score \u5206\u5e03\u5e7f\u00a0<\/div>\n
\u53ef\u63d0\u4f9b\u914d\u5bf9\u7684HRD\u6807\u51c6\u54c1,\u53ef\u66f4\u597d\u8ba1\u7b97HRD score<\/div>\n
\u7ec6\u80de\u7cfb\u6765\u6e90\uff0c\u6700\u5927\u9650\u5ea6\u6a21\u62df\u4e34\u5e8a\u6837\u672c<\/div>\n
\u591a\u79cd\u4ea7\u54c1\u5f62\u5f0f\u53ef\u9009\uff1agDNA\u3001ctDNA\u3001FFPE<\/div>\n
\u8d28\u91cf\u8ba4\u8bc1\uff1aISO9001<\/div>\n
<\/div>\n
\n\n
\n
\"RmFicvQBAkgBl8aOlERzOXSqbcZHuU4hYsztVC9zdECXJJ5FntEwbs5jCLtM09MEegK8wFV4Wxj7ensR9QHRHrg\"\/<\/figure><\/div>\n\n<\/div>\n
\u56fe\uff1a\u5206\u5b50\u8bca\u65ad\u6807\u51c6\u54c1\u5168\u6d41\u7a0b\u76d1\u63a7\uff08\u6765\u6e90\/\u83c1\u826f\u57fa\u56e0\uff09<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\u9644\uff1a\u5173\u4e8eHRR\/HRD\u68c0\u6d4b<\/div>\n
\u4ec0\u4e48\u662f\u540c\u6e90\u91cd\u7ec4\u4fee\u590d\u901a\u8def\u57fa\u56e0\uff08HRR\uff09\uff1f<\/div>\n
\u9664\u4e86\u6700\u8457\u540d\u7684BRCA1\/2\uff0c\u540c\u6e90\u91cd\u7ec4\u4fee\u590d\u901a\u8def\u8fd8\u5305\u62ec\u4e0a\u4e0b\u6e38\u8c03\u63a7\u7684\u4f17\u591a\u57fa\u56e0\uff0c\u5b83\u4eec\u540c\u6837\u4e5f\u5728DNA\u53cc\u94fe\u65ad\u88c2\u7684\u4fee\u590d\u4e2d\u8d77\u5230\u91cd\u8981\u4f5c\u7528\u3002\u76ee\u524d\u6bd4\u8f83\u516c\u8ba4\u7684\u6709\u534e\u76db\u987f\u5927\u5b6616\u4e2a\u57fa\u56e0\u7684HR panel\uff08\u57fa\u56e0\u5217\u8868\uff1aATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MRE11A, NBN, PALB2, RAD51C, RAD51D, RBBP8, SLX4, XRCC2\uff09\u3002<\/div>\n
<\/div>\n
\n\n
\n
\"RmFicvQBAkgBl8aOlERzOXSqbcZHuU4hYJibdD4Iwoh7b5hicliaicJFrxgrl6YdxsYjuE25sBP26ArGUxseJ4dGdHw\"\/<\/figure><\/div>\n\n
\u56fe\uff1aHRD\u53d1\u751f\u539f\u56e0\uff08\u6765\u6e90\/Google\uff09<\/div>\n
\u4ec0\u4e48\u662f\u540c\u6e90\u91cd\u7ec4\u4fee\u590d\u7f3a\u9677\uff08HRD\uff09\uff1f<\/div>\n
HRD\u6307\u7684\u5c31\u662f\u5f53DNA\u51fa\u73b0\u53cc\u94fe\u65ad\u88c2\u65f6\uff0c\u7ec6\u80de\u5931\u53bb\u4e86\u901a\u8fc7\u540c\u6e90\u91cd\u7ec4\u7684\u65b9\u5f0f\u5bf9\u65ad\u88c2\u8fdb\u884c\u4fee\u590d\u7684\u80fd\u529b\u3002\u5bfc\u81f4HRD\u7684\u539f\u56e0\u662f\u591a\u65b9\u9762\u7684\uff0c\u76ee\u524d\u5df2\u77e5\u7684\u539f\u56e0\u9664\u4e86BRCA1\/2\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\u5916\uff0cBRCA1\u542f\u52a8\u5b50\u7532\u57fa\u5316\u3001HRR\u5176\u4ed6\u57fa\u56e0\u7a81\u53d8\u4ee5\u53ca\u5916\u754c\u56e0\u7d20\u5bfc\u81f4\u7684BRCA\u57fa\u56e0\u8868\u8fbe\u4e0b\u8c03\u90fd\u4f1a\u5bfc\u81f4HRD\u3002<\/div>\n
\u00a0<\/div>\n
\u5f53\u524d\u7ec4\u7ec7\u68c0\u6d4b\u4ecd\u662fHRR\u68c0\u6d4b\u7684\u91d1\u6807\u51c6\uff0cFDA\u5df2\u7ecf\u6279\u51c6\u7ec4\u7ec7\u68c0\u6d4b\u4f5c\u4e3a\u524d\u5217\u817a\u764cHRR\u57fa\u56e0\u7a81\u53d8\u7684\u4f34\u968f\u8bca\u65ad\u3002\u5728\u7ec4\u7ec7\u68c0\u6d4b\u5931\u8d25\u6216\u4e0d\u53ef\u53ca\u7684\u60c5\u51b5\u4e0b\uff0c\u53ef\u4ee5\u8003\u8651\u4f7f\u7528\u8840\u6d46ctDNA\u7684\u68c0\u6d4b\u65b9\u5f0f\u3002\u56fd\u5916\u76f8\u5173\u7814\u7a76\u663e\u793a\uff0c\u5728\u6ee1\u8db3\u4e00\u5b9a\u7684ctDNA\u4e30\u5ea6\u548c\u68c0\u6d4b\u6df1\u5ea6\u7684\u60c5\u51b5\u4e0b\uff0c\u8840\u6d46ctDNA\u4e0e\u7ec4\u7ec7\u68c0\u6d4b\u7684\u4e00\u81f4\u6027\u80fd\u591f\u8fbe\u523080-90%\uff0c\u4e24\u8005\u95f4\u7684\u4e00\u81f4\u6027\u6709\u5f85\u66f4\u8fdb\u4e00\u6b65\u7684\u63a2\u7d22\u548c\u786e\u8bca\u3002<\/div>\n
\u00a0<\/div>\n
HRD\u68c0\u6d4b\u5c1a\u65e0\u7edf\u4e00\u6807\u51c6\uff0c\u4e3b\u8981\u6709\u4e24\u79cd\u9014\u5f84\uff1a<\/div>\n
HRR Gene Panel\uff1a\u901a\u8fc7\u68c0\u6d4b\u5173\u952eHRR\u57fa\u56e0\u7a81\u53d8\u6765\u8bc4\u4f30\u4ea7\u751fHRD\u7684\u539f\u56e0<\/div>\n
HRD Genomic Scar\uff1a\u901a\u8fc7\u68c0\u6d4b\u57fa\u56e0\u7ec4\u635f\u4f24\u7684\u6a21\u5f0f\u6765\u9274\u5b9aHRD\u7684\u7ed3\u679c<\/div>\n
\u00a0<\/div>\n
\u76ee\u524d\u62a5\u9053\u7684\u5375\u5de2\u764cPARPi\u76f8\u5173\u7814\u7a76\u4e3b\u8981\u9009\u62e9\u4f7f\u7528HRD Genomic Scar\u6cd5\u9274\u5b9aHRD\uff0c\u5373\uff1aHRD\u5c06\u4ee5\u4e00\u79cd\u7279\u5b9a\u4e14\u53ef\u8bc6\u522b\u7684\u65b9\u5f0f\u6807\u8bb0\uff08\u6216\u635f\u4f24\uff09\u57fa\u56e0\u7ec4\u75a4\u75d5\u3002HRD Genomic Scar\u4e0d\u4ec5\u53ef\u4ee5\u68c0\u6d4bBRCA\u72b6\u6001\uff0c\u8fd8\u53ef\u4ee5\u5206\u6790\u57fa\u56e0\u4e0d\u7a33\u5b9a\u72b6\u6001\u7c7b\u578b\u3002\u57fa\u56e0\u4e0d\u7a33\u5b9a\u72b6\u6001\u7c7b\u578b\u5206\u4e3a\u4e09\u79cd\u7c7b\u578b\uff1a\u57fa\u56e0\u7ec4\u6742\u5408\u6027\u4e22\u5931\uff08LOH, Loss of heterozygosity\uff09\u3001\u7aef\u7c92\u7b49\u4f4d\u57fa\u56e0\u5931\u5e73\u8861\uff08TAI, Telomeric allelic imbalance\uff09\u548c\u5927\u7247\u6bb5\u8fc1\u79fb\uff08LST\uff0cLarge-scale state transitions\uff09\u00a0\u3002<\/div>\n
\u00a0<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
[1] Li X, Heyer WD. Homologous recombination in DNA repair and DNA damage tolerance. Cell Res. 2008;18:99-113.\u00a0<\/div>\n
[2] Lord CJ, Ashworth A. BRCAness revisited. Nat Rev Cancer. 2016;16:110-120. [3] Watkins JA, Irshad S, Grigoriadis A, Tutt AN. Genomic scars as biomarkers of homologous recombination deficiency and drug response in breast and ovarian cancers. Breast Cancer Res. 2014;16:211\u00a0<\/div>\n
[4]NCCN Guideline Ovarian Cancer (2020.V1).\u00a0<\/div>\n
[5]\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u5987\u79d1\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a.\u4e2d\u56fd\u5375\u5de2\u4e0a\u76ae\u6027\u764c\u7ef4\u6301\u6cbb\u7597\u4e13\u5bb6\u5171\u8bc6\uff082020\uff09. \u4e2d\u56fd\u5b9e\u7528\u5987\u79d1\u4e0e\u4ea7\u79d1\u6742\u5fd7.2020;36(3):234-238.\u00a0<\/div>\n
[6]\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u5987\u79d1\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a.\u4e2d\u534e\u533b\u5b66\u4f1a\u75c5\u7406\u5b66\u5206\u4f1a.\u4e0a\u76ae\u6027\u5375\u5de2\u764cPARP\u6291\u5236\u5242\u76f8\u5173\u751f\u7269\u6807\u5fd7\u7269\u68c0\u6d4b\u7684\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6. \u300a\u4e2d\u56fd\u764c\u75c7\u6742\u5fd7\u300b.2020.30(10):841-848.\u00a0<\/div>\n
[7]NCCN Guidelines Version 1.2020 Prostate Cancer\u00a0<\/div>\n
[8]\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u6ccc\u5c3f\u7537\u751f\u6b96\u7cfb\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a\uff0c\u4e2d\u56fd\u4e34\u5e8a\u80bf\u7624\u5b66\u4f1a\u524d\u5217\u817a\u764c\u4e13\u5bb6\u59d4\u5458\u4f1a. \u4e2d\u56fd\u524d\u5217\u817a\u764c\u60a3\u8005\u57fa\u56e0\u68c0\u6d4b\u4e13\u5bb6\u5171\u8bc6\uff082020\u5e74\u7248\uff09\uff3bJ\uff3d. \u4e2d\u56fd\u764c\u75c7\u6742\u5fd7, 2020, 30(7): 551-560.<\/div>\n
\u00a0<\/div>\n
\u63a8\u8350\u9605\u8bfb<\/div>\n
\u4e13\u8bbf\u83c1\u826f\u57fa\u56e0\u521b\u59cb\u4eba\u674e\u83c1\u534e\u535a\u58eb<\/a><\/div>\n
\u57fa\u56e0\u7b80\u62a5 | \u57fa\u56e0\u68c0\u6d4b\u5728\u7ca4\u53ef\u81ea\u4e3b\u5b9a\u4ef7<\/a><\/div>\n
2021\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66<\/a>\u5408\u4f5c\u62db\u52df\uff08\u4f591\u5e2d\uff09<\/a><\/div>\n
\u3010\u58f0\u660e\u3011\u4e3a\u4f20\u64ad\u79d1\u5b66\u4fe1\u606f\uff0c\u63a8\u52a8\u57fa\u56e0\u53ca\u6570\u5b57\u751f\u547d\u5065\u5eb7\u4ea7\u5b66\u7814\u8fde\u63a5\uff0c\u6211\u4eec\u79c9\u6301\u4e2d\u7acb\u3001\u4e13\u4e1a\u3001\u8d4b\u80fd\u7684\u7406\u5ff5\u6536\u96c6\u3001\u5206\u6790\u6216\u53d1\u5e03\u4fe1\u606f\u3002\u4f46\u7531\u4e8e\u65f6\u6548\u6027\u53ca\u884c\u4e1a\u7279\u6b8a\u6027\uff0c\u6240\u520a\u767b\u5185\u5bb9\u4ec5\u4f9b\u7814\u7a76\u53c2\u8003\uff0c\u4e0d\u4f5c\u4e3a\u51b3\u7b56\u4f9d\u636e\uff1b\u672c\u6587\u76f8\u5173\u4fe1\u606f\u4e0d\u4ee3\u8868\u57fa\u56e0\u6167\u673a\u6784\u7684\u89c2\u70b9\uff1b\u201c\u57fa\u56e0\u6167\u201d\u520a\u767b\u7684\u539f\u521b\u5185\u5bb9\u7684\u77e5\u8bc6\u4ea7\u6743\u4e3a\u201c\u57fa\u56e0\u6167\u201d\u5546\u6807\u62e5\u6709\u8005\u53ca\u76f8\u5173\u6743\u5229\u4eba\u6240\u6709\uff1b\u6b22\u8fce\u8f6c\u8f7d\uff0c\u8f6c\u8f7d\u8bf7\u7533\u8bf7\u5e76\u6ce8\u660e\u6765\u6e90\u3002\u6b22\u8fce\u4e2a\u4eba\u53ca\u673a\u6784\u6295\u7a3f\u53ca\u5408\u4f5c\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0<\/div>\n
\u00a0\u5173\u4e8e\u57fa\u56e0\u6167\u00a0<\/div>\n
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