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Genetic variants associated with breast-cancer risk.

机译:与乳腺癌风险相关的遗传变异。

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In The Lancet Oncology, Zhang and colleagues1 adeptly synthesise a vast body of data and literature pertaining to susceptibility genes for breast cancer. BRCA1 was discovered in 1994 and BRCA2 in 1995; since these early days, large international collaborations have been formed to move research forward, resulting in discovery of CHEK2 in 2002.2 This burgeoning collaborative spirit was a response to the necessity of studying larger and larger populations to detect smaller and smaller risks. Recent genome-wide association studies (GWAS)-which report odds ratios (ORs) of around 1-2-typically have 100 or more authors (by contrast, the OR associated with a 8RCA1 or BRCA2 mutation is ten or higher and the OR with a CHEK2 variant is 2-3).
机译:在《柳叶刀肿瘤》杂志上,Zhang及其同事1巧妙地合成了与乳腺癌易感基因有关的大量数据和文献。 1994年发现了BRCA1,1995年发现了BRCA2;从早期开始,就形成了大规模的国际合作以推动研究发展,并在2002.2年发现了CHEK2。这种迅速发展的合作精神是对研究越来越多的人口以发现越来越小的风险的必要性的一种回应。最近的全基因组关联研究(GWAS)-报告比值比(OR)大约为1-2,通常有100个或更多的作者(相比之下,与8RCA1或BRCA2突变相关的OR为10或更高,而与8RCA1或BRCA2突变相关的OR为CHEK2变体为2-3)。

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