Nature: 乳腺癌的遗传学研究为揭开致病机理提供了线索
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本周《自然》和《自然-遗传学》发表两篇论文介绍了与乳腺癌风险上升相关的遗传变异。人们希望全基因组关联研究（收集成千上万的个体数据进行研究）能够改进该疾病的筛选、早期检测和治疗。特别致谢Nature提供讯息和资料授权。
乳腺癌风险受遗传影响，虽然之前已知105个遗传区域与乳腺癌相关，但是它们对于患病风险的影响在很大程度上仍未可知。Douglas Easton及同事采用一种新型靶向基因型分型阵列，比对了乳腺癌女性和未患乳腺癌女性的基因组，鉴定出了65个与乳腺癌风险相关的新遗传区域。《自然》论文报告称，整体而言，它们可以解释18%的家族性乳腺癌相对风险。
在《自然-遗传学》论文中，Roger Milne及同事重点研究的是乳腺癌的一个特别亚型，他们比对了雌激素受体阴性肿瘤女性、BRCA1易感基因携带者和对照组被试的基因组，鉴定出了10个与雌激素受体阴性乳腺癌风险相关的新位点。加上之前已报告的位点，它们共同可以解释该乳腺癌16%的家族性风险。他们还发现，BRCA1突变携带者的乳腺癌风险和普通群体的雌激素受体阴性乳腺癌风险之间存在强关联。
图：乳腺癌细胞
剑桥大学亦发文：
The findings are the result of work by the OncoArray Consortium, a huge endeavour involving 550 researchers from around 300 different institutions in six continents. In total, they analysed genetic data from 275,000 women, of whom 146,000 had been diagnosed with breast cancer.
Professor Doug Easton from the University of Cambridge, one of the lead investigators on the study, says: “These findings add significantly to our understanding of the inherited basis of breast cancer. As well as identifying new genetic variants, we have also confirmed many that we had previously suspected. There are some clear patterns in the genetic variants that should help us understand why some women are predisposed to breast cancer, and which genes and mechanisms are involved.”
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The researchers believe these differences may be sufficient to change practice, such as in how women at different risks are screened. In many countries, women are offered screening by mammography from age 50; women at increased risk because of a family history can be offered screening earlier, and those at particularly high risk can be offered screening by MRI, which is more sensitive.
“Using data from genomic studies, combined with information on other known risk factors, will allow better breast cancer risk assessment, therefore helping to identify a small but meaningful proportion of women at high risk of breast cancer,” says Professor Jacques Simard at Université Laval, Quebec city, Canada.
“These women may benefit from more intensive screening, starting at a younger age, or using more sensitive screening techniques, allowing early detection and prevention of the disease. At the same time, this personalised information will also be useful to adapt screening modalities for women at substantially lower risk.”
更多资讯参见论文链接：
http://nature.com/articles/doi:10.1038/nature24284 http://nature.com/articles/doi:10.1038/ng.3785
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