Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis
Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis
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DOI：
10.1055/s-0033-1360178
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发表时间：
2013-12-01
影响因子：
2.7
通讯作者：
Beckmann, M. W.
中科院分区：
文献类型：
--
作者：
Fasching, P. A.;Ekici, A. B.;Beckmann, M. W.
过去十年的几项进展引发了乳腺癌风险研究领域的发展。其中之一是人类基因组序列的可用性以及廉价的基因分型可能性。另一个是研究的全球化，这导致大型国际联盟的研究合作不断发展，促进了数十万患者和健康对照个体的临床和基因型数据的汇集。本综述关注乳腺癌风险研究的最新进展，重点关注新的遗传性乳腺癌风险因素的发现及其在已确定的非遗传性风险因素中的意义。最后，临床应用高度依赖于乳腺癌风险预测模型的准确性，不仅对于所有乳腺癌患者，而且对于分子亚型，尤其是那些与不良预后相关的亚型。最近的风险预测综合了所有可能的风险因素，包括流行病学风险因素、乳房X线密度和遗传风险因素。
Several advancements over the last decade have triggered the developments in the field of breast cancer risk research. One of them is the availability of the human genome sequence along with cheap genotyping possibilities. Another is the globalization of research, which has led to the growth of research collaboration into large international consortia that facilitate the pooling of clinical and genotype data of hundreds of thousands of patients and healthy control individuals. This review concerns with the recent developments in breast cancer risk research and focuses on the discovery of new genetic breast cancer risk factors and their meaning in the context of established non-genetic risk factors. Finally the clinical application is highly dependent on the accuracy of breast cancer risk prediction models, not only for all breast cancer patients, but also for molecular subtypes, preferably for those which are associated with an unfavorable prognosis. Recently risk prediction incorporates all possible risk factors, which include epidemiological risk factors, mammographic density and genetic risk factors.