ATM mutations in patients with hereditary pancreatic cancer.
ATM mutations in patients with hereditary pancreatic cancer.
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DOI：
10.1158/2159-8290.cd-11-0194
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发表时间：
2012-01
期刊：
影响因子：
28.2
通讯作者：
Klein AP
中科院分区：
文献类型：
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作者：
Roberts NJ;Jiao Y;Yu J;Kopelovich L;Petersen GM;Bondy ML;Gallinger S;Schwartz AG;Syngal S;Cote ML;Axilbund J;Schulick R;Ali SZ;Eshleman JR;Velculescu VE;Goggins M;Vogelstein B;Papadopoulos N;Hruban RH;Kinzler KW;Klein AP
全基因组测序在两个家族性胰腺癌家族中发现了杂合性、结构性、毛细血管扩张性共济失调(ATM)基因突变。与疾病分离的突变在两个家系和肿瘤分析中都显示野生型等位基因缺失。对另外166例家族性胰腺癌先证者的序列分析发现，另外4名患者的atm基因存在有害突变，而在190名配偶对照组中没有发现有害突变(p=0.046)。这些结果表明ATM突变在家族性胰腺癌易感性中起重要作用。
Genome-wide sequencing identified heterozygous, constitutional, Ataxia telangiectaisa mutated (ATM) gene mutations in two kindreds with familial pancreatic cancer. Mutations segregated with disease in both kindreds and tumor analysis demonstrated LOH of the wildtype allele. Sequence analysis of an additional 166 familial pancreatic cancer probands indentified four additional patients with deleterious mutations in the ATM gene, while no deleterious mutations were identified in 190 spouse controls (p=0.046). These results indicate that ATM mutations play an important role in familial pancreatic cancer predisposition.