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乳腺癌易感性与若干基因变异有关

2012-02-03 MedSci MedSci原创

乳腺癌基因易感性
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　最新研究显示，乳腺癌的易感性与若干基因变异有关，本周的《自然·遗传学》报告了这一发现。乳腺癌作为女性常见癌症，每年新增病例可多达100万。 　　在这项研究中，Douglas Easton与同事对包括全球40多个研究在内的7万个乳腺癌案例以及6.8万个对照案例进行了全基因组关联分析，鉴定出3个与乳腺癌易感性相关的基因区域。其中两个基因区域仅仅与雌激素受体阳性乳腺癌有关联。同时，他们注意到数个可

　最新研究显示，乳腺癌的易感性与若干基因变异有关，本周的《自然·遗传学》报告了这一发现。乳腺癌作为女性常见癌症，每年新增病例可多达100万。

　　在这项研究中，Douglas Easton与同事对包括全球40多个研究在内的7万个乳腺癌案例以及6.8万个对照案例进行了全基因组关联分析，鉴定出3个与乳腺癌易感性相关的基因区域。其中两个基因区域仅仅与雌激素受体阳性乳腺癌有关联。同时，他们注意到数个可能与乳腺发育和乳腺癌细胞生长相关的基因，或将有助于揭示乳腺癌的发病机制。

　　相关链接：Genome-wide association analysis identifies three new breast cancer susceptibility loci

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10−35), 12q24 (rs1292011; P = 4.3 × 10−19) and 21q21 (rs2823093; P = 1.1 × 10−12). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.

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    2023-05-27 1dea4a7em68(暂无匿称) 来自福建省

    谢谢分享

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2139350, encodeId=1f782139350c4, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2018/02/23/914ab8c212b86139546fc16eed98b36f.jpg, createdBy=90821711402, createdName=1dea4a7em68(暂无匿称), createdTime=Sat May 27 10:10:39 CST 2023, time=2023-05-27, status=1, ipAttribution=福建省), GetPortalCommentsPageByObjectIdResponse(id=1314113, encodeId=d8431314113ea, content=<a href='/topic/show?id=b5e641e1279' target=_blank style='color:#2F92EE;'>#基因变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41712, encryptionId=b5e641e1279, topicName=基因变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=512d422, createdName=canlab, createdTime=Sun Feb 05 14:52:00 CST 2012, time=2012-02-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342243, encodeId=c23e134224399, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Sun Feb 05 14:52:00 CST 2012, time=2012-02-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1460491, encodeId=e66e1460491c4, content=<a href='/topic/show?id=36a7596628a' target=_blank style='color:#2F92EE;'>#易感性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=59662, encryptionId=36a7596628a, topicName=易感性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f6af6344165, createdName=FukaiBao, createdTime=Sun Feb 05 14:52:00 CST 2012, time=2012-02-05, status=1, ipAttribution=)]
    2012-02-05 canlab

    #基因变异#

    0

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    2012-02-05 12498dabm77暂无昵称

    #变异#

    0

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    2012-02-05 FukaiBao

    #易感性#

    0

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