The following is a selection of recent publications from members of the Niehaus Center:

• Ravichandran V, Shameer Z, Kemel Y, Walsh M, Cadoo K, Lipkin S, Mandelker D, Zhang L, Robson M, Offit K, Vijai J. Toward automation of germline variant curation in clinical cancer genetics. Genet Med. 2019 Feb 21. doi: 10.1038/s41436-019-0463-8. [Epub ahead of print]
• Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O’Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK. Microsatellite instability is associated with the presence of lynch syndrome pan-cancer. J Clin Oncol. 2019 Feb 1;37(4):286-295.
• Wong W, Lowery MA, Berger MF, Kemel Y, Taylor B, Zehir A, Srinivasan P, Bandlamudi C, Chou J, Capanu M, Varghese A, Yu KH, Iacobuzio-Donahue CA, Shia J, Klimstra DS, Jarnagin WR, Stadler ZK, O’Reilly EM. Ampullary cancer: evaluation of somatic and germline genetic alterations and association with clinical outcomes. Cancer. 2019 Jan 8. doi:10.1002/cncr.31951. [Epub ahead of print]
• Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 Nov;39(11):1542-1552.
• Lowery MA, Wong W, Jordan E, Lee J, Kemel Y, Vijai J, Mandelker D, Zehir A, Capanu M, Salo-Mullen E, Arnold AG, Yu KH, Varghese AM, Kelsen DP, Brenner R, Kaufmann E, Ravichandran V, Mukherjee S, Berger MF, Hyman DM, Klimstra DS, Abou-Alfa GK, Tjan C, Covington C, Maynard H, Allen PJ, Askan G, Leach SD, Iacobuzio-Donahue CA, Robson ME, Offit K, Stadler ZK, O’Reilly EM. Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms. J Natl Cancer Inst. 2018 Oct 1;110(10):1067-1074.
• Dubard Gault M, Mandelker D, DeLair D, Kemel Y, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Hechtman J, Borras E, Jairam S, Zhang L, Ciyu Y, Bayraktar EC, Birsoy O, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF. Germline SDHA mutations in children and adults with cancer. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4).
• Carlo MI, Mukherjee S, Mandelker D, Vijai J, Kemel Y, Zhang L, Knezevic A, Patil S, Ceyhan-Birsoy O, Huang KC, Redzematovic A, Cosky D, Stewart C, Pradhan N, Arnold AG, Hakimi AA, Chen YB, Coleman JA, Hyman DM, Ladanyi M, Cadoo KA, Walsh MF, Stadler ZK, Lee CH, Feldman DR, Voss MH, Robson M, Motzer RJ, Offit K. Prevalence of germline mutations in cancer susceptibility genes in patients with advanced renal cell carcinoma. JAMA Oncol. 2018 Sep 1;4(9):1228-1235.
• Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O’Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K. Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing. JAMA. 2017 Sept 5;318(9):825-835.
• Carlo MI, Chaim J, Patil S, Kemel Y, Schram AM, Woo K, Coskey D, Nanjangud GJ, Voss MH, Feldman DR, Hsieh JJ, Hakimi AA, Chen YB, Motzer RJ, Lee CH. Genomic characterization of renal medullary carcinoma and treatment outcomes. Clin Genitourin Cancer. 2017 Dec;15(6):e987-e994.
• Joseph V, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SI, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KI, Norton L, Rennert G, Offit K. A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer. Cancer Discovery. 2016 Nov;6(11):1267-1275.
• Offit K. The future of clinical cancer genomics. Semin Oncol. 2016 Oct;43(5)615-622.
• Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, Garber JE, Offit K, Robson ME. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol. 2016 Sep;13(9):581-8.
• Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Eng J Med. 2016 Aug 4;375(5):443-53.
• Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J. Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes. Brief Bioinform. 2016 Jul;17(4):672-7.
• Stadler ZK, Battaglin F, Middha S, Hechtman JF, Tran C, Cercek A, Yaeger R, Segal NH, Varghese AM, Reidy-Lagunes DL, Kemeny NE, Salo-Mullen EE, Ashraf A, Weiser MR, Garcia-Aguilar J, Robson ME, Offit K, Arcila ME, Berger MF, Shia J, Solit DB, Saltz LB. Reliable detection of mismatch repair deficiency in colorectal cancers using mutational load in next-generation sequencing panels. J Clin Oncol. 2016 Jun 20;34(18):2141-7.
• Shah PD, Patil S, Dickler MN, Offit K, Hudis CA, Robson ME. Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: differences based on germline mutation status. Cancer. 2016 Apr 15;122(8):1178-84.
• O’Donnell PH, Alanee S, Stratton KL, Garcia-Grossman IR, Cao H, Ostrovnaya I, Plimack ER, Manschreck C, Ganshert C, Smith ND, Steinberg GD, Vijai J, Offit K, Stadler WM, Bajorin DF. Clinical evaluation of cisplatin sensitivity of germline polymorphisms in neoadjuvant chemotherapy for urothelial cancer. Clin Genitourin Cancer. 2016 Dec;14(6):511-517.
• Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman D, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M. Germline variants in targeted tumor sequencing using matched normal DNA. JAMA Oncol. 2016 Jan;2(1):104-11.