{"id":55770,"date":"2018-09-28T01:00:00","date_gmt":"2018-09-30T02:08:38","guid":{"rendered":"http:\/\/www.05921.net\/index.php\/2018\/09\/30\/jama%ef%bc%9a%e5%9f%ba%e5%9b%a0%e6%a3%80%e6%b5%8b%e4%b8%8d%e6%98%af%e9%9d%99%e6%80%81%e7%9a%84%ef%bc%8c%e8%bf%911-4%e6%84%8f%e4%b9%89%e4%b8%8d%e7%a1%ae%e5%ae%9a%e7%aa%81\/"},"modified":"2018-09-30T10:08:39","modified_gmt":"2018-09-30T02:08:39","slug":"jama%ef%bc%9a%e5%9f%ba%e5%9b%a0%e6%a3%80%e6%b5%8b%e4%b8%8d%e6%98%af%e9%9d%99%e6%80%81%e7%9a%84%ef%bc%8c%e8%bf%911-4%e6%84%8f%e4%b9%89%e4%b8%8d%e7%a1%ae%e5%ae%9a%e7%aa%81","status":"publish","type":"post","link":"https:\/\/www.05921.net\/index.php\/55770\/","title":{"rendered":"JAMA\uff1a\u57fa\u56e0\u68c0\u6d4b\u4e0d\u662f\u201c\u9759\u6001\u201d\u7684\uff0c\u8fd11\/4\u201c\u610f\u4e49\u4e0d\u786e\u5b9a\u7a81\u53d8\u201d\u88ab\u91cd\u65b0\u5206\u7c7b"},"content":{"rendered":"
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\u8fd1\u65e5\uff0c\u4e00\u9879\u56de\u987e\u4e86145\u4e07\u4eba\u7684\u9057\u4f20\u6027\u764c\u75c7\u57fa\u56e0\u6d4b\u5e8f\u7ed3\u679c\u7684\u7814\u7a76\u53d1\u73b0\uff0c\u8fd125%\u7684\u201c\u4e0d\u786e\u5b9a\u91cd\u8981\u6027\u7684\u7a81\u53d8\u201d\uff08variants of uncertain significance\uff09\u4e4b\u540e\u88ab\u91cd\u65b0\u5206\u7c7b\uff0c\u5176\u4e2d\u5927\u591a\u6570\u4f1a\u964d\u7ea7\u4e3a\u201c\u826f\u6027\u201d\u3002<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\"JAMA\uff1a\u57fa\u56e0\u68c0\u6d4b\u4e0d\u662f\u201c\u9759\u6001\u201d\u7684\uff0c\u8fd11\/4\u201c\u610f\u4e49\u4e0d\u786e\u5b9a\u7a81\u53d8\u201d\u88ab\u91cd\u65b0\u5206\u7c7b\"
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Theo Ross\u535a\u58eb\uff08\u5de6\uff09\u548c\u9057\u4f20\u5b66\u987e\u95eeJacqueline Mersch\u8ba4\u4e3a\uff0c\u9057\u4f20\u54a8\u8be2\u5e76\u4e0d\u662f\u201c\u9759\u6001\u201d\u7684\uff0c\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5e94\u8be5\u5728\u83b7\u5f97\u65b0\u4fe1\u606f\u65f6\u91cd\u65b0\u5ba1\u67e5\u6d4b\u5e8f\u7ed3\u679c\u3002\uff08\u56fe\u7247\u6765\u6e90\uff1aUT Southwestern\uff09<\/span><\/p>\n


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9\u670825\u65e5\uff0c\u300aJournal of the American Medical Association\u300b\u671f\u520a\u53d1\u8868\u4e86\u8fd9\u4e00\u7bc7\u9898\u4e3a\u201cPrevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing\u201d\u7684\u6587\u7ae0\u3002\u6765\u81ea\u4e8e\u5fb7\u514b\u8428\u65af\u5927\u5b66\u897f\u5357\u533b\u5b66\u4e2d\u5fc3\u7684\u79d1\u5b66\u5bb6\u4eec\u6839\u636e\u7814\u7a76\u7ed3\u679c\u5f3a\u70c8\u5efa\u8bae\uff1a\u5f53\u79d1\u5b66\u77e5\u8bc6\u5f97\u5230\u53d1\u5c55\u3001\u57fa\u56e0\u88ab\u91cd\u65b0\u5206\u7c7b\u65f6\uff0c\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5e94\u8be5\u5b9a\u671f\u56de\u987e\u5176\u6d4b\u5e8f\u7ed3\u679c\uff0c\u5e76\u7ed9\u533b\u751f\u63d0\u4f9b\u76f8\u5173\u4fe1\u606f\u3002<\/strong><\/span><\/p>\n


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\u4ed6\u4eec\u56de\u987e145\u4e07\u4eba\u7684\u9057\u4f20\u6027\u764c\u75c7\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u53d1\u73b0\uff0c\u8fd125%\u7684\u201c\u4e0d\u786e\u5b9a\u91cd\u8981\u6027\u7684\u57fa\u56e0\u7a81\u53d8\u201d\u968f\u540e\u88ab\u91cd\u65b0\u5206\u7c7b<\/strong>\u2014\u2014\u6709\u4e9b\u4e0e\u764c\u75c7\u76f8\u5173\u7684\u53ef\u80fd\u6027\u8f83\u4f4e\uff0c\u6709\u4e9b\u4e0e\u764c\u75c7\u76f8\u5173\u7684\u53ef\u80fd\u6027\u8f83\u9ad8\u3002<\/span><\/p>\n


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\"JAMA\uff1a\u57fa\u56e0\u68c0\u6d4b\u4e0d\u662f\u201c\u9759\u6001\u201d\u7684\uff0c\u8fd11\/4\u201c\u610f\u4e49\u4e0d\u786e\u5b9a\u7a81\u53d8\u201d\u88ab\u91cd\u65b0\u5206\u7c7b\"
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\u57fa\u56e0\u7a81\u53d8\u6e90\u4e8e\u7ec6\u80de\u5206\u88c2\uff0c\u4f46\u662f\u5e76\u4e0d\u662f\u6240\u6709\u7684\u53d8\u5f02\u90fd\u4e0e\u75be\u75c5\u6709\u5173\uff0c\u5b83\u4eec\u88ab\u5206\u6210\u201c\u826f\u6027\u201d\u3001\u201c\u53ef\u80fd\u826f\u6027\u201d\u201c\u4e0d\u786e\u5b9a\u91cd\u8981\u6027\u7684\u53d8\u5f02\u201d\u3001\u201c\u53ef\u80fd\u81f4\u75c5\u201d\u548c\u201c\u81f4\u75c5\u6027\u7684\u201d\u3002<\/strong><\/span><\/p>\n


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\u201c\u5982\u679c\u4e00\u4e2a\u7a81\u53d8\u88ab\u91cd\u65b0\u5f52\u7c7b\u4e3a\u81f4\u75c5\u6027\u7684\uff0c\u90a3\u4e48\u5bf9\u4e8e\u60a3\u8005\u800c\u8a00\u610f\u4e49\u662f\u4e0d\u540c\u7684\u3002\u201d\u6587\u7ae0\u4f5c\u8005\u3001\u5185\u79d1\u6559\u6388Theo Ross\u8868\u793a\uff0c\u201c\u4f8b\u5982\uff0c\u5982\u679c\u60a3\u8005\u643a\u5e26\u4e00\u4e2aLynch\u7efc\u5408\u5f81\u7a81\u53d8\u57fa\u56e0\uff0c\u4ed6\u4eec\u5219\u9700\u8981\u4e00\u4e2a\u4e0d\u540c\u7684\u6cbb\u7597\u65b9\u6848\u2014\u2014\u5728\u66f4\u65e9\u7684\u5e74\u9f84\u6216\u8005\u66f4\u9891\u7e41\u7684\u8fdb\u884c\u7ed3\u80a0\u955c\u68c0\u67e5\uff1b\u53c8\u6216\u8005\u5982\u679c\u643a\u5e26BRCA\u7a81\u53d8\u57fa\u56e0\uff0c\u60a3\u8005\u6216\u8bb8\u4f1a\u9009\u62e9\u9884\u9632\u6027\u624b\u672f\u6216\u8005\u63a5\u53d7\u8d85\u58f0\u68c0\u67e5\u7b49\u3002\u201d<\/span><\/p>\n


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\u5178\u578b\u7684\u57fa\u56e0\u7ea6\u5305\u542b27000\u4e2a\u78b1\u57fa\u5bf9\uff08A-T\uff0cG-C\uff09\uff0c\u8fd9\u4e9b\u5927\u91cf\u7684\u78b1\u57fa\u5bf9\u610f\u5473\u7740\u65e0\u6570\u7684\u6f5c\u5728\u53d8\u5f02\u3002\u968f\u7740\u9ad8\u901a\u91cf\u80bf\u7624\u6d4b\u5e8f\u548c\u80da\u7cfb\u57fa\u56e0\u68c0\u6d4b\u7684\u5e7f\u6cdb\u5e94\u7528\uff0c\u5982\u4f55\u5e94\u5bf9\u4e34\u5e8a\u610f\u4e49\u4e0d\u660e\u786e\u7684\u57fa\u56e0\u7a81\u53d8\uff0c\u662f\u5927\u5bb6\u9762\u4e34\u7684\u6311\u6218\u4e4b\u4e00\u3002\u201c\u6211\u4eec\u4e00\u76f4\u5728\u83b7\u53d6\u65b0\u7684\u6570\u636e\uff0c\u53ef\u80fd\u4f1a\u53d1\u73b0\u6709\u9057\u4f20\u6613\u611f\u6027\u7684\u65b0\u5bb6\u5ead\uff0c\u5e76\u4ece\u4ed6\u4eec\u7684DNA\u7a81\u53d8\u4e2d\u5b66\u4e60\u5230\u65b0\u7684\u77e5\u8bc6\u3002\u201d Theo Ross\u535a\u58eb\u89e3\u91ca\u9053\u3002<\/span><\/p>\n


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\u8fd9\u9879\u7814\u7a76\u56de\u987e\u4e862006\u5e74-2016\u5e74\u95f4Myriad Genetics\u5b9e\u9a8c\u5ba4\u4ee5\u53ca\u897f\u5357\u533b\u5b66\u4e2d\u5fc3\u764c\u75c7\u9057\u4f20\u5b66\u9879\u76ee\u7684\u76f8\u5173\u4e34\u5e8a\u6570\u636e\u3002\u603b\u4f53\u800c\u8a00\uff0c24.9%\u7684\u201c\u4e0d\u786e\u5b9a\u91cd\u8981\u6027\u7684\u53d8\u5f02\u201d\u88ab\u91cd\u65b0\u5206\u7c7b\uff0c\u5176\u4e2d\u5927\u591a\u6570\u964d\u7ea7\u4e3a\u826f\u6027\u3002<\/strong><\/span><\/p>\n


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\u8fd9\u9879\u7814\u7a76\u63d0\u9192\u533b\u751f\u9700\u8981\u77e5\u9053\u5173\u4e8e\u57fa\u56e0\u7a81\u53d8\u7684\u77e5\u8bc6\u66f4\u65b0\u6709\u591a\u5feb\uff0c\u91cd\u65b0\u5206\u7c7b\u5f88\u5e38\u89c1\u3002\u540c\u65f6\uff0c\u72ec\u7acb\u7684\u5546\u4e1a\u578b\u5b9e\u9a8c\u5ba4\u9700\u8981\u5b9a\u671f\u68c0\u67e5\u57fa\u56e0\u7a81\u53d8\u6570\u636e\uff0c\u5e76\u63d0\u9192\u533b\u751f\u6ce8\u610f\u91cd\u65b0\u5206\u7c7b\u3002\u5373\u4fbf\u4ece\u201c\u4e0d\u786e\u5b9a\u201d\u91cd\u65b0\u5206\u7c7b\u4e3a\u201c\u826f\u6027\u201d\uff0c\u5bf9\u4e8e\u75c5\u4eba\u6765\u8bf4\u4e5f\u5f88\u91cd\u8981\uff0c\u56e0\u4e3a\u53ef\u4ee5\u8ba9\u4ed6\u4eec\u5b89\u5fc3\u3002<\/span><\/p>\n


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\u53c2\u8003\u8d44\u6599\uff1a<\/span><\/strong>1\uff09Genetic testing: Not a one-and-done deal<\/span><\/p>\n

2\uff09Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing<\/span><\/p>\n

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\u672c\u6587\u7cfb\u751f\u7269\u63a2\u7d22\u539f\u521b\uff0c\u6b22\u8fce\u4e2a\u4eba\u8f6c\u53d1\u5206\u4eab\u3002\u5176\u4ed6\u4efb\u4f55\u5a92\u4f53\u3001\u7f51\u7ad9\u5982\u9700\u8f6c\u8f7d\uff0c\u987b\u5728\u6b63\u6587\u524d\u6ce8\u660e\u6765\u6e90\u751f\u7269\u63a2\u7d22\u3002<\/span><\/p>\n<\/section>\n

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