Research in the laboratory focuses on the discovery and characterization of novel cancer predisposing genes in humans, including both common and rare variants. We conduct studies to describe phenotype, penetrance, modifying effect, and clinical outcomes associated with germline genetic alterations in cancer patients and their families. In addition, our research focuses on the interpretation and clinical translation of results of massively parallel sequencing of germline genomes in cancer-prone kindreds.


Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct;45(10):1226-31. doi: 10.1038/ng.2754. Epub 2013 Sep 8.

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013;9(3):e1003173. doi: 10.1371/journal.pgen.1003173. Epub 2013 Mar 27.

Bojesen SE et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2. doi: 10.1038/ng.2566.

Vijai J, Kirchhoff T, Schrader KA, Brown J, Dutra-Clarke AV, Manschreck C, Hansen N, Rau-Murthy R, Sarrel K, Przybylo J, Shah S, Cheguri S, Stadler Z, Zhang L, Paltiel O, Ben-Yehuda D, Viale A, Portlock C, Straus D, Lipkin SM, Lacher M, Robson M, Klein RJ, Zelenetz A, Offit K. Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. PLoS Genet. 2013;9(1):e1003220. doi: 10.1371/journal.pgen.1003220. Epub 2013 Jan 17.

Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee YH, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K. Rare de novo germline copy-number variation in testicular cancer. Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2.

Alanee S, Couch F, Offit K. Association of a HOXB13 variant with breast cancer. N Engl J Med. 2012 Aug 2;367(5):480-1. doi: 10.1056/NEJMc1205138.