Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
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DOI：
10.1038/ng.2814
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发表时间：
2013-12
期刊：
影响因子：
30.8
通讯作者：
Flanagan, Adrienne M.
中科院分区：
文献类型：
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作者：
Behjati, Sam;Tarpey, Patrick S.;Presneau, Nadege;Scheipl, Susanne;Pillay, Nischalan;Van Loo, Peter;Wedge, David C.;Cooke, Susanna L.;Gundem, Gunes;Davies, Helen;Nik-Zainal, Serena;Martin, Sancha;McLaren, Stuart;Goodie, Victoria;Robinson, Ben;Butler, Adam;Teague, Jon W.;Halai, Dina;Khatri, Bhavisha;Myklebost, Ola;Baumhoer, Daniel;Jundt, Gernot;Hamoudi, Rifat;Tirabosco, Roberto;Amary, M. Fernanda;Futreal, P. Andrew;Stratton, Michael R.;Campbell, Peter J.;Flanagan, Adrienne M.
人们认识到，一些突变的癌症基因有助于许多癌症类型的发展，而另一些则是癌症类型特有的。在影响多种癌症类别的基因中，不同癌症类型的突变通常是相似的。然而，在这里，我们观察到了不同组蛋白3.3驱动突变的肿瘤类型特异性。在73/77(95%)例软骨母细胞瘤中，我们发现K36M突变主要发生在H3F3B，这是编码组蛋白3.3的两个基因之一。相比之下，92%(49/53)的骨巨细胞瘤仅在H3F3A中含有组蛋白3.3变异，这些变异是G34W或在一例中是G34L。突变仅限于基质细胞群体，在破骨细胞或其前体细胞中未检测到。在先前报道的儿童脑肿瘤H3F3A K27M和G34R/V突变的背景下，组蛋白3.3突变的肿瘤类型特异性的显著图像出现，表明组蛋白3.3残基、突变和基因具有不同的功能。
It is recognised that some mutated cancer genes contribute to the development of many cancer types whilst others are cancer-type specific. Amongst genes that affect multiple cancer classes, mutations are usually similar in the different cancer types. Here, however, we observed exquisite tumour-type specificity of different histone 3.3 driver mutations. In 73/77 (95%) cases of chondroblastoma we found K36M mutations predominantly in H3F3B, which is one of two genes encoding histone 3.3. By contrast, 92% (49/53) of giant cell tumours of bone harboured histone 3.3 variants exclusively in H3F3A, which were G34W or, in one case, G34L. The mutations were restricted to the stromal cell population and not detected in osteoclasts or their precursors. In the context of previously reported H3F3A K27M and G34R/V mutations of childhood brain tumours, a remarkable picture of tumour-type specificity of histone 3.3 mutations emerges, indicating distinct functions of histone 3.3 residues, mutations and genes.
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影响因子：
8.8
作者：
Bamford, S;Dawson, E;Forbes, S;Clements, J;Pettett, R;Dogan, A;Flanagan, A;Teague, J;Futreal, PA;Stratton, MR;Wooster, R
通讯作者：
Wooster, R
影响因子：
3.7
作者：
HORTON, MA;TAYLOR, ML;HELFRICH, MH
通讯作者：
HELFRICH, MH
影响因子：
30.8
作者：
Wu, Gang;Broniscer, Alberto;McEachron, Troy A.;Lu, Charles;Paugh, Barbara S.;Becksfort, Jared;Qu, Chunxu;Ding, Li;Huether, Robert;Parker, Matthew;Zhang, Junyuan;Gajjar, Amar;Dyer, Michael A.;Mullighan, Charles G.;Gilbertson, Richard J.;Mardis, Elaine R.;Wilson, Richard K.;Downing, James R.;Ellison, David W.;Zhang, Jinghui;Baker, Suzanne J.
通讯作者：
Baker, Suzanne J.
影响因子：
10.5
作者：
Chan, Kui-Ming;Fang, Dong;Zhang, Zhiguo
通讯作者：
Zhang, Zhiguo
DOI：
10.1093/bioinformatics/btp698
发表时间：
2010-03-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Li H;Durbin R
通讯作者：
Durbin R