Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
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DOI：
10.1126/science.1171202
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发表时间：
2009-04-10
期刊：
影响因子：
--
通讯作者：
Klein AP
中科院分区：
文献类型：
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作者：
Jones S;Hruban RH;Kamiyama M;Borges M;Zhang X;Parsons DW;Lin JC;Palmisano E;Brune K;Jaffee EM;Iacobuzio-Donahue CA;Maitra A;Parmigiani G;Kern SE;Velculescu VE;Kinzler KW;Vogelstein B;Eshleman JR;Goggins M;Klein AP
通过对一例家族性胰腺癌患者的蛋白编码基因进行全序列测定，我们发现PALB 2中存在一个生殖系截短突变，该突变似乎是导致该患者易患胰腺癌的原因。对另外96例家族性胰腺癌患者的分析发现了3种不同的蛋白质截短突变，从而证实了PALB 2作为胰腺癌易感基因的作用。PALB 2突变在家族性乳腺癌患者中已有报道，PALB 2蛋白是BRCA 2的结合伴侣。这些结果表明，蛋白质编码基因的完整，无偏测序可以导致遗传性疾病的基因负责的鉴定。
Through complete sequencing of the protein-coding genes in a patient with familial pancreatic cancer, we identified a germline, truncating mutation inPALB2that appeared responsible for this patient's predisposition to the disease. Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role ofPALB2as a susceptibility gene for pancreatic cancer.PALB2mutations have been previously reported in patients with familial breast cancer, and the PALB2 protein is a binding partner for BRCA2. These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease.
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DOI：
10.1126/science.1164382
发表时间：
2008-09-26
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Parsons DW;Jones S;Zhang X;Lin JC;Leary RJ;Angenendt P;Mankoo P;Carter H;Siu IM;Gallia GL;Olivi A;McLendon R;Rasheed BA;Keir S;Nikolskaya T;Nikolsky Y;Busam DA;Tekleab H;Diaz LA Jr;Hartigan J;Smith DR;Strausberg RL;Marie SK;Shinjo SM;Yan H;Riggins GJ;Bigner DD;Karchin R;Papadopoulos N;Parmigiani G;Vogelstein B;Velculescu VE;Kinzler KW
通讯作者：
Kinzler KW
DOI：
10.1126/science.1164368
发表时间：
2008-09-26
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Jones S;Zhang X;Parsons DW;Lin JC;Leary RJ;Angenendt P;Mankoo P;Carter H;Kamiyama H;Jimeno A;Hong SM;Fu B;Lin MT;Calhoun ES;Kamiyama M;Walter K;Nikolskaya T;Nikolsky Y;Hartigan J;Smith DR;Hidalgo M;Leach SD;Klein AP;Jaffee EM;Goggins M;Maitra A;Iacobuzio-Donahue C;Eshleman JR;Kern SE;Hruban RH;Karchin R;Papadopoulos N;Parmigiani G;Vogelstein B;Velculescu VE;Kinzler KW
通讯作者：
Kinzler KW
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
16
作者：
Xia, Bing;Sheng, Qing;Livingston, David M.
通讯作者：
Livingston, David M.
影响因子：
56.9
作者：
Wood, Laura D.;Parsons, D. Williams;Vogelstein, Bert
通讯作者：
Vogelstein, Bert