ATM mutations in patients with hereditary pancreatic cancer

遗传性胰腺癌患者的 ATM 突变

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作者:Nicholas J Roberts, Yuchen Jiao, Jun Yu, Levy Kopelovich, Gloria M Petersen, Melissa L Bondy, Steven Gallinger, Ann G Schwartz, Sapna Syngal, Michele L Cote, Jennifer Axilbund, Richard Schulick, Syed Z Ali, James R Eshleman, Victor E Velculescu, Michael Goggins, Bert Vogelstein, Nickolas Papadopoulo

Significance

The genes responsible for the majority of cases of familial pancreatic ductal adenocarcinoma are unknown. We here identify ATM as a predisposition gene for pancreatic ductal adenocarcinoma. Our results have important implications for the management of patients in affected families and illustrate the power of genome-wide sequencing to identify the basis of familial cancer syndromes.

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