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警惕:BRCA基因突变直接影响男性健康

2016-05-23 佚名 测序中国

Joe Scholten的姐姐在战胜乳腺癌后又在对抗卵巢癌,在她体内检测到了一个基因突变与这两种癌症都相关。Joe Scholten对此的反应有点不同寻常:他也接受了检测。他因此发现自己也携带有BRCA基因突变。他迅速地将这个结果告诉了他的兄弟们、其他亲戚以及他的女儿。他常会想,如果他姐姐早点知道自己的遗传风险,她会采取一些什么措施。她已经在54岁时因为卵巢癌去世了,JoeScholten如今

Joe Scholten的姐姐在战胜乳腺癌后又在对抗卵巢癌,在她体内检测到了一个基因突变与这两种癌症都相关。Joe Scholten对此的反应有点不同寻常:他也接受了检测。

他因此发现自己也携带有BRCA基因突变。他迅速地将这个结果告诉了他的兄弟们、其他亲戚以及他的女儿。他常会想,如果他姐姐早点知道自己的遗传风险,她会采取一些什么措施。她已经在54岁时因为卵巢癌去世了,JoeScholten如今意识到,不了解自己的遗传谱系是非常危险的。

Scholten的行为使他成为一个异类。如今很多女性开始意识到BRCA1和BRCA2基因发生突变会带来危险,正是这种基因突变促使演员Angelina Jolie选择切除乳房和卵巢。然后很少有男性知道,这种基因缺陷同样对他们以及他们的孩子有致命的影响。

BRCA突变与男性患癌风险

新的研究成果促使我们重新思考。已知BRCA突变与前列腺癌相关,而且越来越多的研究表明,这些突变的影响可能比已了解的要更大。与非携带者相比,携带这些突变的男性更容易患上侵袭性的、致死的前列腺癌,在更晚期才能诊断出,最终会导致死亡。

近期一项新的研究表明,携带有BRCA2突变的男性诊断出患前列腺癌时,处于晚期的几率会更高,而且结果更糟。美国北岸大学卫生系统的泌尿外科肿瘤专家Brian Helfand说,“我们才刚开始真正理解这些基因是如何影响男性患癌风险的。”

这两种基因产生的蛋白质可以帮助修复损伤的DNA,它们的突变会减弱机体对癌症的防御能力。BRCA缺陷除了与乳腺癌、卵巢癌和前列腺癌相关外,还有研究表明与黑色素瘤和胰腺癌相关。如果父母有BRCA基因突变,那么孩子遗传该突变的几率为50%。

虽然很多携带这些突变的人并没有患上癌症,但是他们患病的风险更高,其风险会因个体、种族和性别的不同而有所差异。

据美国国家癌症研究所估计,12%的女性会患上乳腺癌,而BRCA1和BRCA2基因突变分别将女性患病率提升至65%和45%。携带有BRCA1突变的女性中约40%会患上卵巢癌,有BRCA2突变的女性中约17%会患上卵巢癌。

男性患乳腺癌的风险一般是0.1%,而携带有BRCA2突变时则升至7%。BRCA1基因突变同样会增加风险,但是目前还不知道会增加多少。

对于前列腺癌,上周美国泌尿学会会议上展示的研究表明,携带有BRCA2基因突变的前列腺癌患者中17%发现时处于癌症晚期,病情恶化速度是不携带该基因突变患者的4倍。在一项关于非裔美国男性研究中,沃尔特里德国家军事医疗中心研究人员检测了超过850份冻存的血液样本,发现与白人相比,黑人更容易携带BRCA1和BRCA2基因突变,更容易患上恶性疾病。

需要提高男性对BRCA基因突变的认识

西雅图癌症护理联盟/华盛顿大学医学中心的肿瘤学家BruceMontgomery说,“现在的问题是,人们总是将BRCA基因突变与女性和她们的癌症联系起来。因此在男人的思维中,BRCA基因就是与女性乳腺癌相关的,与他们关系不大。”

Bill Rotter今年63岁,来自美国威斯康星州Mequon。他希望能早点知道自己携带有BRCA2基因突变,这样他就不会忽略掉2013年末在他右乳头旁发现的豌豆大小的肿块。后来他接受了乳房X光检查、超声波以及活检,发现患有乳腺浸润性导管癌,这使他成为了每年被诊断出患有乳腺癌的2200名美国男性中的一员,而这其中每年约400人会死于这种疾病。

Rotter切除了右侧乳房,由于癌症出现在前哨淋巴结中,在几周后又进行二次手术切除了13个淋巴结,接着又进行了化疗和放疗。他了解到自己的基因突变情况后想知道,如果早期采取措施是否可以预防疾病扩散。


切除了右侧乳房的Bill Rotter

如今Rotter开始呼吁其他男性接受检测,去了解他们自己是否有患病风险。他偶尔会为基因检测公司Ambry Genetics写一些博客文章,他说,“我想要唤起人们对癌症遗传因素的意识。令人惊讶的是,非常多的人,甚至是医学领域的人,都对此一无所知。”


德克萨斯大学西南医学中心癌症遗传学项目主任Theodora Ross表示,BRCA突变对男性接受检测和治疗的方式都会有影响,应该在携带者40岁时进行前列腺癌筛查。PARP抑制剂已被证实可使一些携带有BRCA突变的卵巢癌患者受益,这种药物也许可以应用于携带有该基因缺陷的前列腺癌患者中。

了解自己的家族史,早日防范

Rotter说,回顾家族史并不感到意外:他的父亲64岁时死于前列腺癌,他父亲的两个兄弟同样死于该疾病。一位他从未见过的堂兄在30多岁时死于乳腺癌。除此之外,他家族的德系犹太人血统使他们成为突变携带者的几率增大了10倍。

但是如果男性接受更多的遗传检测,他们将不可避免地面临多年来女性一直处理的问题,并不是所有的家庭都愿意讨论他们的健康风险。当2005年被诊断患有乳腺癌时,来自斯塔顿岛的Vincent Moltisanti意识到了这一点。

他搜集了自己的家族病史——这并不是一件容易的事——并进行了遗传咨询。Moltisanti今年68岁了,他说,“在意大利家庭中,没有人会给出他们的健康信息。你只能猜测你曾祖父母的情况以及导致他们死亡的原因。”

当检测结果显示他携带有BRCA突变时,他女儿Jaime也进行了检测并发现结果也是阳性。她本来计划选择某个时候切除乳房和卵巢,但是在2014年因为肺癌去世。Moltisanti劝说他的两个哥哥采取措施,但是他们不感兴趣。他不仅担心这两个兄弟,还担心他的侄女、侄子和他们的孩子。

Scholten理解这种家族秘密。他的姐姐是一名律师,在21世纪初患上了乳腺癌,但是并没有告诉其他人,因为她母亲患有老年痴呆症,她不想让她母亲难过。她不知道有一位堂兄已经因为乳腺癌去世。Scholten说,如果她的医生们知道这位表亲的情况,也许他们会更早地安排检测。而他姐姐直到诊断出卵巢癌后才接受了检测。他说,“这些信息点都没有连接起来。”

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    2016-08-27 李东泽

    这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1957872, encodeId=68ab195e872b2, content=<a href='/topic/show?id=9489e022763' target=_blank style='color:#2F92EE;'>#男性健康#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=90, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70227, encryptionId=9489e022763, topicName=男性健康)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=278f2500221, createdName=12498fa0m11暂无昵称, createdTime=Thu Nov 24 14:09:00 CST 2016, time=2016-11-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2086545, encodeId=9ef3208654567, content=<a href='/topic/show?id=d6a53695ce' target=_blank style='color:#2F92EE;'>#BRCA基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=88, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3695, encryptionId=d6a53695ce, topicName=BRCA基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f73a255, createdName=medscijoin, createdTime=Mon Nov 21 10:09:00 CST 2016, time=2016-11-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=105792, encodeId=fb63105e921d, content=这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。, beContent=null, objectType=article, channel=null, level=null, likeNumber=120, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Sat Aug 27 21:46:00 CST 2016, time=2016-08-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=105591, encodeId=306c105591a5, content=这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。, beContent=null, objectType=article, channel=null, level=null, likeNumber=106, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Sat Aug 27 14:25:00 CST 2016, time=2016-08-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1593991, encodeId=07e815939916a, content=<a href='/topic/show?id=63cc368459' target=_blank style='color:#2F92EE;'>#BRCA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3684, encryptionId=63cc368459, topicName=BRCA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=918e18200218, createdName=cmj14wellington, createdTime=Wed May 25 01:09:00 CST 2016, time=2016-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=86859, encodeId=bbb286859b3, content=我们在这方面的意识就更不用说了, beContent=null, objectType=article, channel=null, level=null, likeNumber=168, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/ajNVdqHZLLD1O97y3am76k8v12uX92l8MnMUZBZIrorphCDWyEYgqDulOfDXQZLWGiaSibbvm6F0ficxxxDMzwY9g/132, createdBy=bae077124, createdName=Jin Chou, createdTime=Mon May 23 12:43:00 CST 2016, time=2016-05-23, status=1, ipAttribution=)]
    2016-08-27 李东泽

    这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。

    0

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  6. [GetPortalCommentsPageByObjectIdResponse(id=1957872, encodeId=68ab195e872b2, content=<a href='/topic/show?id=9489e022763' target=_blank style='color:#2F92EE;'>#男性健康#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=90, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70227, encryptionId=9489e022763, topicName=男性健康)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=278f2500221, createdName=12498fa0m11暂无昵称, createdTime=Thu Nov 24 14:09:00 CST 2016, time=2016-11-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2086545, encodeId=9ef3208654567, content=<a href='/topic/show?id=d6a53695ce' target=_blank style='color:#2F92EE;'>#BRCA基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=88, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3695, encryptionId=d6a53695ce, topicName=BRCA基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f73a255, createdName=medscijoin, createdTime=Mon Nov 21 10:09:00 CST 2016, time=2016-11-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=105792, encodeId=fb63105e921d, content=这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。, beContent=null, objectType=article, channel=null, level=null, likeNumber=120, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Sat Aug 27 21:46:00 CST 2016, time=2016-08-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=105591, encodeId=306c105591a5, content=这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。, beContent=null, objectType=article, channel=null, level=null, likeNumber=106, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Sat Aug 27 14:25:00 CST 2016, time=2016-08-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1593991, encodeId=07e815939916a, content=<a href='/topic/show?id=63cc368459' target=_blank style='color:#2F92EE;'>#BRCA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3684, encryptionId=63cc368459, topicName=BRCA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=918e18200218, createdName=cmj14wellington, createdTime=Wed May 25 01:09:00 CST 2016, time=2016-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=86859, encodeId=bbb286859b3, content=我们在这方面的意识就更不用说了, beContent=null, objectType=article, channel=null, level=null, likeNumber=168, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/ajNVdqHZLLD1O97y3am76k8v12uX92l8MnMUZBZIrorphCDWyEYgqDulOfDXQZLWGiaSibbvm6F0ficxxxDMzwY9g/132, createdBy=bae077124, createdName=Jin Chou, createdTime=Mon May 23 12:43:00 CST 2016, time=2016-05-23, status=1, ipAttribution=)]
    2016-05-23 Jin Chou

    我们在这方面的意识就更不用说了

    0

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