The Sol Goldman Pancreatic Cancer Research Center

Advances and Discoveries Made at Johns Hopkins

Sequencing Familial Pancreatic Cancer Genomes
In a paper published in Cancer Discovery (February 2016), Nick Roberts, DVM, PhD, from the Sol Goldman Pancreatic Cancer Research Center reported the results of the largest ever sequencing study of familial pancreatic cancer. In a wonderfully collaborative multi-institutional study, Dr. Roberts and colleagues sequences the genomes of over 650 people with familial pancreatic cancer. They found that familial pancreatic cancer is remarkably heterogeneous. While previously known familial pancreatic cancer genes were identified (such as BRCA1, BRCA2, PALB2, ATM and p16/CDKN2A), most of the other candidate familial pancreatic cancer genes only explained a few families. There doesn’t appear to be one gene that explains all of familial pancreatic cancer, instead, many genes each explain only a few percent of familial pancreatic cancers. What does this mean for families? It means that in the future genetic counselors will not be testing high-risk patients for just one "familial pancreatic cancer gene." Instead, future tests will have to incorporate testing for panels of genes.

Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel EM, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, 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 M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP. Cancer Discov. February 2016.

Note: This study was generously funded with the support of Susan Wojcicki and Dennis Troper. Several of the participants in this study, including Dr. Hruban, receive royalty payments from Myriad Genetics for the PalB2 invention.