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JAMA:别一刀切!不同BRCA突变致乳腺癌和卵巢癌风险不同

2015-04-08 Zhang JL译 MedSci原创

2013年5月,美国著名影星安吉丽娜.茱莉在《纽约时报》撰文,说她由于携带BRCA1基因突变而预防性切除了双侧乳腺,近期又有消息称她将切除双侧输卵管以预防卵巢癌。BRCA是抑癌基因,在调节细胞复制、DNA损伤修复、细胞正常生长方面有重要作用;如果BRCA基因突变,就丧失了抑制肿瘤发生的功能。BRCA突变类型达数百种之多,与人体的很多癌症的发生都有关系,其中关系最密切者是乳腺癌,其次是卵巢癌。然而,

2013年5月,美国著名影星安吉丽娜.茱莉在《纽约时报》撰文,说她由于携带BRCA1基因突变而预防性切除了双侧乳腺,近期又有消息称她将切除双侧输卵管以预防卵巢癌。BRCA是抑癌基因,在调节细胞复制、DNA损伤修复、细胞正常生长方面有重要作用;如果BRCA基因突变,就丧失了抑制肿瘤发生的功能。BRCA突变类型达数百种之多,与人体的很多癌症的发生都有关系,其中关系最密切者是乳腺癌,其次是卵巢癌。然而,不同BRCA突变与乳腺癌和卵巢癌的发病风险之间的关系,目前仍无明确文献报道。

宾夕法尼亚大学佩雷尔曼医学院和艾布拉姆森癌症中心的研究人员在一项涉及31000多名拥有BRCA1或BRCA2基因致癌突变妇女的研究中指出,不同的基因突变与乳腺癌和卵巢癌的风险存在显著差异。该研究结果显示,一些突变导致更高的患乳腺癌的风险,而其他突变显示更高的卵巢癌的风险,这就要求卫生保健提供者和运营者提供更有效的癌症风险评估和预防保健的策略。该项研究发表在4月7日出版的 JAMA 杂志上。

“了解对于如何降低与BRCA1或BRCA2突变遗传突变有关的癌症风险,我们已经取得了很多进展。但直到现在,对于遗传某特定突变的女人的不同癌症风险仍知之甚少,”宾夕法尼亚大学医学院艾布拉姆森癌症中心流行病学教授Rebbeck博士说,“这项研究的结果是个性化评估一个拥有特定突变的女人患癌风险的第一步,可以帮助指导基因携带者和服务提供者在癌症预防中的决策过程。”

Rebbeck和同事对19581名携带BRCA1突变和11900名携带BRCA2突变的女性进行分析评估。研究人员分析BRCA1和BRCA2突变类型或者位置是否与患乳腺癌或卵巢癌的风险相关。他们发现BRCA1和BRCA2的某些区域变异时,导致更高的卵巢癌的风险,而其他区域突变则带来更高的患乳腺癌的风险。在过去,一个女人携带BRCA1突变会被认为有59%的风险患乳腺癌和34%患卵巢癌,直到70岁。然而,新的研究结果指出,女性携带特定子集的BRCA突变患乳腺癌的风险更高(69%)和卵巢癌的风险较低(26%),比如德系犹太人人群。重要的问题是这些差异是否会改变一个女人对施行预防性手术或其他行为的决策。

“有了这些新发现,我们对特异性突变风险有了新的了解,可以为BRCA1/2突变携带者风险评估提供重要的信息,” Abramson癌症中心遗传学副教授Katherine L. Nathanson博士说,“我们需要做更多的研究来为BRCA1和BRCA2突变携带者们确定不同突变的绝对风险,以及这些差异如何影响决策和标准的医学处理,如预防性手术。”

原始出处:


Timothy R. Rebbeck et al.Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer. JAMA, 2015; 313 (13): 1347 DOI: 10.1001/jama.2014.5985

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    2015-05-22 sjq027
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    2015-04-08 222.244.66.**

    定量分析风险

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