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黑色素瘤遗传学:风险相关基因的最新进展

Melanoma genetics: an update on risk-associated genes.

作者信息

Udayakumar Durga, Tsao Hensin

机构信息

Department of Dermatology, Wellman Center for Photomedicine, Harvard Medical School, Massachusetts General Hospital, Edwards 211, 50 Blossom Street, Boston, MA 02114, USA.

出版信息

Hematol Oncol Clin North Am. 2009 Jun;23(3):415-29, vii. doi: 10.1016/j.hoc.2009.03.011.

Abstract

The past 15 years have seen rapid advances in both our understanding of hereditary melanoma genetics and the technologies that enable scientists to make discoveries. Despite great efforts by many groups worldwide, other high-risk melanoma loci besides CDKN2A still remain elusive. A panel of polymorphisms that appears to confer low-to-moderate risk for melanoma has been assembled through functional and genome-wide association studies. The goal of personalized melanoma risk prediction is within our reach, although true clinical use has yet to be established.

摘要

在过去的15年里,我们对遗传性黑色素瘤遗传学的理解以及使科学家能够做出发现的技术都取得了迅速进展。尽管全球许多团队付出了巨大努力,但除了CDKN2A之外,其他高风险黑色素瘤基因座仍然难以捉摸。通过功能和全基因组关联研究,已经汇集了一组似乎赋予黑色素瘤低至中度风险的多态性。个性化黑色素瘤风险预测的目标已经触手可及,尽管尚未确立其真正的临床应用。

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