Research Summary
Dr. Klein is the Director of the National Familial Pancreas Tumor Registry, the largest pancreatic cancer family registry in the world (www.nfptr.org). She is a genetic epidemiologist with a focus on cancer research. Her current work focuses on the identification the genetic and environmental risk factors for pancreatic cancer as well as other complex genetic diseases. Recently, in the first demonstration that whole exome sequencing approaches can be used to identify the causes of a hereditary disease, she discovered that mutations in the PALB2 gene increase the risk of pancreatic cancer. In addition, she has developed a clinical risk assessment tool for high-risk pancreatic cancer families, PancPRO in order to facilitate the translation of her research findings into the clinical setting.
Selected Publications
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*. Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science. 2009 Apr 10;324(5924):217. Epub 2009 Mar 5.
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. ATM Mutations in Patients with Hereditary Pancreatic Cancer. Cancer Discovery 2012(2)41
Roberts NJ, Norris AL, Petersen GM, Bondy ML Brand R, Gallinger S, Kurtz R, Olson SH, Rustgi AN, Schwartz A, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee K, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon, KW, Niknafs N, Parla J, Pirooznia, Potash J, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins MG, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP. Cancer Discov. 2016 Feb;6(2):166-75. doi: 10.1158/2159-8290.CD-15-0402. Epub 2015 Dec 9. PubMed PMID: 26658419; PubMed Central PMCID: PMC4744563.
Childs EJ*, Mocci E*, Campa D*, Bracci PM, Gallinger S, Goggins M, Li D, Neale R, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P11, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ12, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP Common variation at at 17q25.1, 3q29, 7p13, and 2p13.3 associated with susceptibility of pancreatic cancer. Nature Genetics,
Wang W, Chen S, Hruban RH, Parmigiani G, Klein AP. PancPRO:risk assessment for individuals with a family history of pancreatic cancer. JCO 2007 Apr 10;25(11): 1417-1422