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深入研究散发性黑色素瘤中的体细胞变异。

Delving into somatic variation in sporadic melanoma.

机构信息

The Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Pigment Cell Melanoma Res. 2012 Mar;25(2):155-70. doi: 10.1111/j.1755-148X.2012.00976.x. Epub 2012 Feb 13.

DOI:10.1111/j.1755-148X.2012.00976.x
PMID:22260482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3374856/
Abstract

Melanoma, the most aggressive form of skin cancer, has increased in incidence more rapidly than any other cancer. The completion of the human genome project and advancements in genomics technologies has allowed us to investigate genetic alterations of melanoma at a scale and depth that is unprecedented. Here, we survey the history of the different approaches taken to understand the genomics of melanoma - from early candidate genes, to gene families, to genome-wide studies. The new era of whole-exome and whole-genome sequencing has paved the way for an in-depth understanding of melanoma biology, identification of new therapeutic targets, and development of novel personalized therapies for melanoma.

摘要

黑色素瘤是最具侵袭性的皮肤癌，其发病率增长速度比其他任何癌症都要快。人类基因组计划的完成和基因组学技术的进步使我们能够以前所未有的规模和深度研究黑色素瘤的遗传改变。在这里，我们调查了不同方法在理解黑色素瘤基因组学方面的历史 - 从早期的候选基因到基因家族，再到全基因组研究。全外显子组和全基因组测序的新时代为深入了解黑色素瘤生物学、鉴定新的治疗靶点以及开发新型个性化黑色素瘤治疗方法铺平了道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/470f9ec93378/nihms-383214-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/7d5038fe45c3/nihms-383214-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/49202e293d6b/nihms-383214-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/470f9ec93378/nihms-383214-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/7d5038fe45c3/nihms-383214-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/49202e293d6b/nihms-383214-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67b/3374856/470f9ec93378/nihms-383214-f0003.jpg

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本文引用的文献

1
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.外显子组测序鉴定出黑色素瘤中反复出现的体细胞 MAP2K1 和 MAP2K2 突变。
Nat Genet. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026.
2
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.外显子组测序鉴定转移性黑色素瘤中 MAP3K5 和 MAP3K9 的频繁体细胞突变。
Nat Genet. 2011 Dec 25;44(2):165-9. doi: 10.1038/ng.1041.
3
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.一种新的 MITF 基因反复突变可导致家族性和散发性黑色素瘤。
Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630.
4
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.一个 SUMOylation 缺陷的 MITF 种系突变易导致黑色素瘤和肾细胞癌。
Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539.
5
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.环形铁幼粒细胞性难治性贫血伴多系发育异常中的体细胞 SF3B1 突变。
N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26.
6
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.G 蛋白偶联受体外显子捕获分析鉴定出黑色素瘤中 GRM3 的激活突变。
Nat Genet. 2011 Sep 25;43(11):1119-26. doi: 10.1038/ng.950.
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Expression of the metabotropic glutamate receptor 5 (mGluR5) induces melanoma in transgenic mice.代谢型谷氨酸受体 5（mGluR5）的表达会导致转基因小鼠发生黑色素瘤。
Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15219-24. doi: 10.1073/pnas.1107304108. Epub 2011 Sep 6.
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C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation.C-KIT 信号依赖小眼畸形相关转录因子发挥对细胞增殖的影响。
PLoS One. 2011;6(8):e24064. doi: 10.1371/journal.pone.0024064. Epub 2011 Aug 24.
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Germline mutations in BAP1 predispose to melanocytic tumors.胚系 BAP1 基因突变可导致黑色素细胞肿瘤。
Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910.
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Glutamatergic pathway targeting in melanoma: single-agent and combinatorial therapies.靶向黑色素瘤谷氨酸能途径：单药治疗和联合治疗。
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