Science2014-06-11 1:02 PM

乳腺癌抑癌基因BRCA1和易感基因BRCA2的特刊 “The Race” to Clone BRCA1

论文摘要 

二十年前,一组研究人员对BRCA1进行了克隆及测序;BRCA1是一个人类肿瘤的抑制基因,当该基因发生突变时会使人罹患乳腺癌和卵巢癌的风险增加。

相关的癌症易感基因——BRCA2——也在之后不久得到分离。自那以后,有超过1百万人接受了BRCA1和BRCA2的测试,这一筛检过程挽救了许多人的生命。然而,这些基因的确认也导致了有关基因检测伦理的激烈辩论。(例如,就在去年,美国最高法院作出裁决:公司不能对自然发生的基因拥有专利。)

为了凸显BRCA1和BRCA2的重要性——以及向前推动癌症研究——这一期《科学》特刊包括了一则引言、一篇相关的社论、三篇《观点栏目》文章以及一组新闻及信息图片。《科学-信号传导》及《科学-转化医学》也推出了与该专题有关的研究。

在三篇《科学-观点栏目》文章的第一篇中,Mary-Claire King重点介绍了克隆BRCA1基因的为期4年的“竞赛”;在至少十几个不同实验室中的100多位研究人员为此耗力费神地工作。她说,当竞赛开始的时候,研究人员是以手工来对基因组进行测序的,但到该竞赛结束时,科学家们已经研发出了一套工具,这些工具可被用作现代基因组学的构建模块。

在另外一篇《观点栏目》文章中,Fergus Couch及其同事描述了目前可供体内有BRCA1或BRCA2突变的女性使用的(以及正在研发中的)临床策略。文章的作者讨论了迄今为止已经报告的在BRCA1中的1800种罕见的变异体,以及报告的在BRCA2中的2000种罕见的变异体;他们强调了与将这些变异体结合到“个性化”医学之中有关的挑战。

最后,由Ashok Venkitaraman撰写的一篇《观点栏目》文章将BRCA1和BRCA2描绘为“染色体托管者”,其责任是在细胞周期中维持某个细胞染色体的健全。据该作者披露,这一提议的功能可帮助解释该基因的肿瘤抑制行为。

《科学》杂志的获奖新闻团队也为此杂志特刊提供了有关针对导管癌的新方法的文章,以及其它的自BRCA基因克隆以来被曝光的乳腺癌易感基因及全国乳腺癌联盟主席Fran Visco所进行的奋斗;导管癌是一类不总是会导致乳腺癌的肿瘤。特别的新闻栏目也将包括说明全球乳腺癌发生最频繁地区以及那些乳腺癌最致命地区的信息图片。

Abstract 

The existence of BRCA1 was proven in 1990 by mapping predisposition to young-onset breast cancer in families to chromosome 17q21. Knowing that such a gene existed and approximately where it lay triggered efforts by public and private groups to clone and sequence it. The press baptized the competition “the race” and reported on it in detail for the next 4 years. BRCA1 was positionally cloned in September 1994. Twenty years later, I reflect on “the race” and its consequences for breast cancer prevention and treatment.

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