Sabine Topka, PhD

Associate Director of Laboratory Operations; Head, Functional Genomics, Niehaus Center

Sabine Topka, PhD

Associate Director of Laboratory Operations; Head, Functional Genomics, Niehaus Center

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Sabine Topka, PhD

Office Phone

646-888-3188

Education

University of Bonn

I am a molecular biologist who focuses on investigating the underlying genetic changes and cellular mechanisms leading to oncogenesis, with a specific focus on the role of DNA repair pathways. I leverage information from large next-generation sequencing datasets identifying genetic alterations associated with cancer risk and use CRISPR/Cas9 technology to precisely model these changes and further analyze their functional consequences in vitro and in vivo. A key focus of my recent work is to identify genetic biomarkers predictive of drug response and to define which patients would benefit most from such targeted therapeutic interventions.

Publications

Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, 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):a002584.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620.

Law PJ, Berndt SI, Speedy HE, Camp NJ, Sava GP, Skibola CF, Holroyd A, Joseph V, Sunter NJ, Nieters A, Bea S, Monnereau A, Martin-Garcia D, Goldin LR, Clot G, Teras LR, Quintela I, Birmann BM, Jayne S, Cozen W, Majid A, Smedby KE, Lan Q, Dearden C, Brooks-Wilson AR, Hall AG, Purdue MP, Mainou-Fowler T, Vajdic CM, Jackson GH, Cocco P, Marr H, Zhang Y, Zheng T, Giles GG, Lawrence C, Call TG, Liebow M, Melbye M, Glimelius B, Mansouri L, Glenn M, Curtin K, Diver WR, Link BK, Conde L, Bracci PM, Holly EA, Jackson RD, Tinker LF, Benavente Y, Boffetta P, Brennan P, Maynadie M, McKay J, Albanes D, Weinstein S, Wang Z, Caporaso NE, Morton LM, Severson RK, Riboli E, Vineis P, Vermeulen RC, Southey MC, Milne RL, Clavel J, Topka S, Spinelli JJ, Kraft P, Ennas MG, Summerfield G, Ferri GM, Harris RJ, Miligi L, Pettitt AR, North KE, Allsup DJ, Fraumeni JF, Bailey JR, Offit K, Pratt G, Hjalgrim H, Pepper C, Chanock SJ, Fegan C, Rosenquist R, de Sanjose S, Carracedo A, Dyer MJ, Catovsky D, Campo E, Cerhan JR, Allan JM, Rothman N, Houlston R, Slager S. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Nat Commun. 2017 Feb 6;8:14175.

Vijai J, 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 SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K. A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discov. 2016 Nov;6(11):1267-1275.

Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet. 2015 Jun 23;11(6):e1005262.