梅奥医学中心：八分之一的癌症病人持有可遗传的致癌基因突变
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><img src="https://mmbiz.qpic.cn/mmbiz_jpg/HO0Z9pUcnJnpY6FZCNOvJzD6b3YOb9DlGpIKec0KvbRpH4sr1CXdgciaaHabQTnUVOozos7bYQSicNK9DVmg9Ywg/640?wx_fmt=jpeg&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"></p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><img src="https://mmbiz.qpic.cn/mmbiz_jpg/HO0Z9pUcnJmLHu2mwhRqomKh5AadQPUZ4nFJLXTzGRib4OqxEaR93IQtwiaiarZqZbZo2l39rD7ZHaWXZp1sBc5RQ/640?wx_fmt=jpeg&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"></p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">撰文 | 王聪</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">编辑 | nagisha</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">排版 | 水成文</span></p><span style="color: black;">众所周知，癌症是基因突变<span style="color: black;">导致</span>。<span style="color: black;">导致</span>致癌性基因突变的<span style="color: black;">原由</span><span style="color: black;">能够</span>分为两类，一类是<strong style="color: blue;">后天突变</strong>，<span style="color: black;">包含</span>衰老、不良生活方式、环境<span style="color: black;">原因</span>的等<span style="color: black;">原由</span>，一类是<strong style="color: blue;">遗传突变</strong>，先天遗传了某些致癌基因突变，例如易<span style="color: black;">引起</span><strong style="color: blue;">乳腺癌</strong>的BRAC1、BRAC2基因突变。</span><span style="color: black;"><span style="color: black;">一辈子</span>之中，<span style="color: black;">每一个</span>人都有<span style="color: black;">病患</span>癌症的<span style="color: black;">危害</span>，但在大<span style="color: black;">都数</span><span style="color: black;">状况</span>下，癌症的<span style="color: black;">出现</span>是偶然的，<span style="color: black;">然则</span>，</span><span style="color: black;">有些人在遗传上倾向于发展为某些类型的癌症，例如<strong style="color: blue;">乳腺癌</strong>或<strong style="color: blue;">结直肠癌</strong>等，这<span style="color: black;">常常</span>是<span style="color: black;">由于</span><span style="color: black;">她们</span>从父母那里遗传了特定的癌症<span style="color: black;">危害</span>基因。</span><strong style="color: blue;"><span style="color: black;">基因检测</span></strong><span style="color: black;"><span style="color: black;">能够</span><span style="color: black;">发掘</span><span style="color: black;">哪些</span>可遗传的基因突变，从而有助于个性化癌症治疗，<span style="color: black;">加强</span><span style="color: black;">病人</span><span style="color: black;">存活</span>率，还能提前预防直系亲属的癌症，推动<span style="color: black;">精细</span>医学的发展。</span><span style="color: black;">2020年10月，<strong style="color: blue;">JAMA Oncology</strong> 杂志<span style="color: black;">发布</span>了来世界排名<span style="color: black;">第1</span>的<strong style="color: blue;">梅奥医学中心</strong>的题为：</span><span style="color: black;">Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome</span><span style="color: black;"> 的<span style="color: black;">科研</span>论文。</span><span style="color: black;"><span style="color: black;">科研</span>团队对2984名确诊的癌症<span style="color: black;">病人</span>进行了基因检测，检测结果<span style="color: black;">显示</span>，<strong style="color: blue;">超过八分之一</strong></span><span style="color: black;">（397人，13.3%）</span><span style="color: black;"><strong style="color: blue;">的癌症<span style="color: black;">病人</span><span style="color: black;">拥有</span></strong></span><span style="color: black;"><strong style="color: blue;">与癌症<span style="color: black;">关联</span>的可遗传基因突变</strong></span><span style="color: black;">。</span><span style="color: black;">这些癌症涵盖了多种癌症分期和类型，<span style="color: black;">包含</span><strong style="color: blue;">乳腺癌</strong>、<strong style="color: blue;">结直肠癌</strong>、<strong style="color: blue;">肺癌</strong>、<strong style="color: blue;">卵巢癌</strong>、<strong style="color: blue;">胰腺癌</strong>、<strong style="color: blue;">膀胱癌</strong>、<strong style="color: blue;">前列腺癌</strong>和<strong style="color: blue;">子宫内膜癌</strong>等。</span><span style="color: black;"><span style="color: black;">科研</span>人员惊讶地<span style="color: black;">发掘</span>，<strong style="color: blue;"><span style="color: black;">大夫</span><span style="color: black;">按照</span>标准癌症诊疗指南确定<span style="color: black;">那些</span>癌症<span style="color: black;">病人</span>应该接受基因检测，仅能<span style="color: black;">发掘</span>48%的携带了可遗传基因突变的癌症<span style="color: black;">病人</span></strong>。</span><span style="color: black;"><span style="color: black;">亦</span><span style="color: black;">便是</span>说，</span><span style="color: black;"><strong style="color: blue;">超过一半的<span style="color: black;">拥有</span>可遗传基因突变的癌症<span style="color: black;">病人</span><span style="color: black;">没</span>法<span style="color: black;">经过</span>标准癌症诊疗指南<span style="color: black;">发掘</span></strong></span><span style="color: black;">。超过一半的<span style="color: black;">由于</span>可遗传基因突变<span style="color: black;">引起</span>的癌症<span style="color: black;">病人</span>的致癌<span style="color: black;">原由</span>被遗漏，这<span style="color: black;">针对</span><span style="color: black;">她们</span>的家庭成员有重大影响。</span><img src="https://mmbiz.qpic.cn/mmbiz_png/HO0Z9pUcnJnpY6FZCNOvJzD6b3YOb9Dle74I4dYR1MhibicqpzGeKnxHy7tS7eqen731rm0Vr8vGYmd9FQ0BA9Cg/640?wx_fmt=png&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"><span style="color: black;">2984名确诊的癌症<span style="color: black;">病人</span>，</span><span style="color: black;">有397名癌症<span style="color: black;">病人</span>检测到了<span style="color: black;">最少</span>一种<strong style="color: blue;">与癌症<span style="color: black;">关联</span>的可遗传基因突变</strong></span><span style="color: black;">，其中最<span style="color: black;">平常</span>的6种是：</span><strong style="color: blue;"><span style="color: black;">BRCA1</span></strong><span style="color: black;">和<strong style="color: blue;">BRCA2</strong>突变，共计66人，占比2.2%，<span style="color: black;">引起</span></span><span style="color: black;"><strong style="color: blue;">女性乳腺癌</strong></span><span style="color: black;">；</span><strong style="color: blue;"><span style="color: black;">MUTYH</span></strong><span style="color: black;">突变，共计50人，占比1.7％，与</span><strong style="color: blue;"><span style="color: black;">结直肠癌</span></strong><span style="color: black;"><span style="color: black;">危害</span><span style="color: black;">相关</span>；</span><strong style="color: blue;"><span style="color: black;">CHEK2</span></strong><span style="color: black;">突变，共计47人，占比 1.6％，与</span><span style="color: black;"><strong style="color: blue;">乳腺癌</strong></span><span style="color: black;">、</span><span style="color: black;"><strong style="color: blue;">卵巢癌</strong></span><span style="color: black;">、</span><span style="color: black;"><strong style="color: blue;">前列腺癌</strong></span><span style="color: black;">等多种癌症<span style="color: black;">危害</span><span style="color: black;">相关</span>；</span><span style="color: black;"><strong style="color: blue;"><span style="color: black;">ATM</span></strong><span style="color: black;">突变，共计31人，占比1.0%，与</span></span><span style="color: black;"><strong style="color: blue;">乳腺癌</strong></span><span style="color: black;">、</span><span style="color: black;"><strong style="color: blue;">胰腺癌</strong></span><span style="color: black;">等多种癌症<span style="color: black;">危害</span><span style="color: black;">相关</span>；</span><strong style="color: blue;"><span style="color: black;">错配修复基因</span></strong><span style="color: black;">突变</span><span style="color: black;">（<span style="color: black;">包含</span>MLH1、MSH6、MSH2、MSH3、PMS2）</span><span style="color: black;">，共计29人，占比 1.0％，<span style="color: black;">引起</span><strong style="color: blue;">林奇<span style="color: black;">综合症</span></strong>，与</span><span style="color: black;"><strong style="color: blue;">结直肠癌</strong></span><span style="color: black;"><span style="color: black;">危害</span><span style="color: black;">相关</span>；</span><span style="color: black;"><img src="https://mmbiz.qpic.cn/mmbiz_png/HO0Z9pUcnJmqe4sz6qoibJz2RtEibk2gAPV8voxqvQSZ0unC5hbr21Ouew6nfmK6111zleCwPFIw3pbicZJCuQCpA/640?wx_fmt=png&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"></span><span style="color: black;">基因突变可<span style="color: black;">引起</span>基因功能<span style="color: black;">反常</span>，<span style="color: black;">乃至</span>可<span style="color: black;">引起</span>细胞癌变，</span><span style="color: black;">尽管许多致癌基因突变是偶然在单个细胞中<span style="color: black;">出现</span>的，但这项<span style="color: black;">科研</span><span style="color: black;">显示</span>，<span style="color: black;">科研</span>证实，超过八分之一的癌症<span style="color: black;">病人</span>致癌基因突变是可遗传突变，这些突变<span style="color: black;">诱发</span>了一系列可能<span style="color: black;">引起</span>癌症的事件。</span><span style="color: black;"><span style="color: black;">发掘</span>这些<span style="color: black;">隐匿</span>的可遗传基因突变，有助于对家庭进行癌症管理，并有针对性进行癌症治疗以挽救生命。</span><span style="color: black;">总的<span style="color: black;">来讲</span>，梅奥医学中心的这项针对癌症<span style="color: black;">病人</span>的大规模基因检测<span style="color: black;">显示</span>，</span><span style="color: black;"><strong style="color: blue;">超过八分之一癌症<span style="color: black;">病人</span>的致癌基因突变是可遗传的</strong></span><span style="color: black;">，这<span style="color: black;">寓意</span>着<strong style="color: blue;"><span style="color: black;">她们</span>的子女、兄弟姐妹及其他亲人<span style="color: black;">亦</span>可能携带有这些致癌基因突变。</strong></span><span style="color: black;">更<span style="color: black;">要紧</span>的是，该<span style="color: black;">科研</span><span style="color: black;">发掘</span>，</span><span style="color: black;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">倘若</span><span style="color: black;">根据</span>标准癌症诊疗指南，将有超过一半的癌症<span style="color: black;">病人</span>不会被<span style="color: black;">发掘</span>携带可遗传基因突变</span></strong></span><span style="color: black;">。</span><span style="color: black;"><span style="color: black;">另外</span>，该<span style="color: black;">科研</span>还<span style="color: black;">显示</span>，有28%的癌症<span style="color: black;">病人</span>在接受基因检测后，<span style="color: black;">发掘</span>了致癌基因突变，随之<span style="color: black;">调节</span>了治疗<span style="color: black;">方法</span>。</span><span style="color: black;"><span style="color: black;"><span style="color: black;">科研</span>团队<span style="color: black;">暗示</span>，<span style="color: black;">针对</span>癌症<span style="color: black;">病人</span>及其家人而言，基因检测的普及率还不足，这<span style="color: black;">一般</span>是<span style="color: black;">因为</span></span><strong style="color: blue;">过时的诊疗指南将基因检测仅限于<span style="color: black;">少许</span>高危<span style="color: black;">病人</span></strong><span style="color: black;">，<span style="color: black;">实质</span>上，所有的癌症<span style="color: black;">病人</span>都应该<span style="color: black;">经过</span>基因检测获取完整的遗传信息，这些信息既能<span style="color: black;">指点</span>对<span style="color: black;">病人</span>的治疗<span style="color: black;">方法</span>，还能判断<span style="color: black;">她们</span>的家人<span style="color: black;">可否</span>有<span style="color: black;">关联</span>癌症<span style="color: black;">危害</span>，从而为<span style="color: black;">她们</span>的家人制定相应的癌症预防策略。</span></span><strong style="color: blue;"><span style="color: black;">论文链接：</span></strong><span style="color: black;">https://jamanetwork.com/journals/jamaoncology/article-abstract/2772576</span><a style="color: black;"><span style="color: black;"><img src="https://mmbiz.qpic.cn/mmbiz_jpg/HO0Z9pUcnJkTCGeqkeibdQaazyubCoBqs17tgGSP6Fty5rk8WImUxr4EkwhGQTDMK8n214Ob0DUNRIEUTA5pibCg/640?wx_fmt=jpeg&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"></span></a><a style="color: black;"><span style="color: black;"><img src="https://mmbiz.qpic.cn/mmbiz_jpg/HO0Z9pUcnJngTL4PGbVgmibuW652j9uf16uQHd2zj4gs8BLbskGzta7JG2c3dyXSiaZs80eYSQib7Y3GbQAlN2c6Q/640?wx_fmt=jpeg&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"></span></a><img src="https://mmbiz.qpic.cn/mmbiz_png/73icnXvmN7wOI0rvtgpcAvoymzwXc4GsnicX7nxUa21NoWg2J48JaZ95yswdzic3MZ3Hagz97n5zdXiaMtm7ic36oTA/640?wx_fmt=png&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"><span style="color: black;"><strong style="color: blue;"><span style="color: black;">开放转载</span></strong></span><span style="color: black;">本文开放转载：在本文留言<span style="color: black;">通知</span><span style="color: black;">就可</span></span><img src="https://mmbiz.qpic.cn/mmbiz_png/HO0Z9pUcnJnBVWgRwrfib6eiaUn2RGhCicvJ9DiaXAe5MEh9YvGxNbtLK8RSAuUMq4Gc5ibgiay4SVqMibL0c4sx3uuOQ/640?wx_fmt=png&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"><img src="https://mmbiz.qpic.cn/mmbiz_png/HO0Z9pUcnJnBVWgRwrfib6eiaUn2RGhCicvspiawoZl7LibYqa4kwFp544tov1Wz4icwRsmgsr1S7U8D5WHgVCV74icUA/640?wx_fmt=png&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;"><span style="color: black;"><span style="color: black;"><strong style="color: blue;"><span style="color: black;"> <span style="color: black;">微X</span>加群 </span></strong></span></span><span style="color: black;">为促进前沿<span style="color: black;">科研</span>的传播和交流，<span style="color: black;">咱们</span>组建了多个<strong style="color: blue;">专业交流群</strong>，长按下方二维码，<span style="color: black;">就可</span>添加<span style="color: black;">博主</span><span style="color: black;">微X</span>进群，<span style="color: black;">因为</span>申请人数较多，添加<span style="color: black;">微X</span>时请备注：<strong style="color: blue;">学校</strong>/<strong style="color: blue;">专业</strong>/<strong style="color: blue;">姓名</strong>，<span style="color: black;">倘若</span>是</span><span style="color: black;"><strong style="color: blue;">PI</strong></span><span style="color: black;">/</span><strong style="color: blue;"><span style="color: black;">教授</span></strong><span style="color: black;">，还请注明。</span><img src="https://mmbiz.qpic.cn/mmbiz_jpg/HO0Z9pUcnJkNq0Pdq7YHhcFmDAZQiaibyZEECOXQnnNicwW4HtIxhoMPpuq1NOrKZfNiaHSHzMEkoswSgia1tlQCrMw/640?wx_fmt=jpeg&tp=webp&wxfrom=5&wx_lazy=1&wx_co=1" style="width: 50%; margin-bottom: 20px;">
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;"><span style="color: black;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;">点</strong></strong></strong></strong></span><span style="color: black;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;">在看</strong></strong></strong></strong></span><span style="color: black;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;"><strong style="color: blue;">，传递你的品味</strong></strong></strong></strong></span></span></p>
大势所趋，用于讽刺一些制作目的就是为了跟风玩梗，博取眼球的作品。 我深受你的启发，你的话语是我前进的动力。 楼主的文章非常有意义，提升了我的知识水平。 外链发布论坛学习网络优化SEO。
页:
[1]