Amanda E Toland PhD


Amanda E Toland PhD
Assoc ProfessorCollege of Medicinetoland.13@osu.edu
998 Biomedical Research Tower 460 W 12th Avenue Columbus Ohio 43210
Phone:614-247-8185Fax: 614-688-8675
  • Molecular Biology and Cancer Genetics

General Research Interest

The genetics of cancer susceptibility.

Research Description

Our lab is interested in identifying naturally occurring variations in genes that affect human cancer susceptibility in order to understand how tumors grow and develop, to identify new targets for cancer therapy and prevention, and to better define a person’s risk of getting cancer.  An individual’s risk of developing cancer is due to environmental exposures and their unique combination of inherited genetic variations. As we all have inherited many variations that can increase or decrease our cancer risk by little amounts, we want to understand how different combinations of inherited variations work together to significantly influence cancer risk. Our lab studies three main types of cancer: cutaneous squamous cell carcinoma (SCC), colorectal cancer, and hereditary breast cancer. We are currently looking for combinations of genetic variations that act with Aurora-A and PTPRJ, two cancer susceptibility genes identified as being involved in genetic interactions for skin and colorectal cancer respectively.  In another project, we are identifying genetic risk factors for cutaneous squamous cell carcinoma in organ transplant recipients using allele specific somatic changes in tumors to map candidate loci.  Finally, we have several projects to better characterize breast cancer risk in individuals with variants and deleterious mutations in BRCA1 and BRCA2.

Transinstitutional Work

Our lab is part of an international consortium of over 40 centers called The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), for whose goal is to identify modifiers of risk in BRCA1 and BRCA2 carriers. We have nearly 184 BRCA carriers from OSU who are part of this consortium of over 20,000 carriers. We contribute both lifestyle and genotypic information to be used for identification of these modifiers. We have collaborated directly with Fergus Couch at the Mayo and Ken Offit at Memorial-Sloan Kettering to provide cases and controls for their genome-wide association studies for BRCA1 and BRCA2. In addition to CIMBA, our lab is part of ENIGMA, a newly formed international consortium to characterize BRCA1 and BRCA2 variants of uncertain significance. We collaborate with several investigators at UCSF as part of a program project grant which has ended. We work with Boris Bastian to use allele-specific somatic changes in SCCs from Organ Transplant Recipients to identify loci housing cancer susceptibility genes. We have a collaboration with Rosemary Akhurst to test candidate variants in TGFB pathway genes and other loci we identify through our allelic imbalance studies for SCC risk. Also at UCSF, we have a collaboration with Allan Balmain to use mouse models to map candidate cancer susceptibility genes that interact with Aurora-A. For our colorectal cancer genetic interaction studies, we collaborate with Steven Gruber at the University of Michigan. At OSU we have many ongoing collaborations. These include a collaboration with Tatiana Oberyszyn to examine genetic susceptibility to SCC in outbred SKH mice. We are also collaborating with her to study the genetic and genomic changes that occur in SCCs arising in different immunosuppressive backgrounds. We work with many of the genetic counselors in the Clinical Cancer Genetics program to accrue study participants to the BRCA1 and BRCA2 and the SCC studies. Pathologists Sara Peters and O. Hans Iwenofu and dermatologists David Lambert and Larisa Ravitskiy are actively involved in my SCC projects. We collaborate with Umit Catalyurek to develop new methods for identification of genetic interactions from genome-wide association scan data.

Current Publications

  • Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning M, Hollestelle A, Collée M, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletcher O, Johnson N, Silva ID, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Giles GG, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Kosma VM, Hartikainen J, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Alnæs GG, Kristensen V, Børresen-Dale AL, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Brauch H, Brüning T, Ko YD, Couch FJ, Toland AE, Yannoukakos D, Pharoah PD, Hall P, Benítez J, Malats N, Easton DFA large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium.Hum Mol Genet 23 1934-46 4/1/2014
  • Benitez JDNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.PLoS Genet 10 e1004256 4/1/2014
  • Phillips CJMelanoma incidence rates in active duty military personnel compared with a population-based registry in the United States, 2000-2007.Mil Med 179 247-53 3/1/2014
  • Iwenofu OHExpression of cancer-testis antigens MAGEA1, MAGEA3, ACRBP, PRAME, SSX2, and CTAG2 in myxoid and round cell liposarcoma.Mod Pathol 1/24/2014
  • Couch FJGenome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.Carcinogenesis 1/23/2014
  • Fleming JL, Dworkin AM, Allain DC, Fernandez S, Wei L, Peters SB, Iwenofu OH, Ridd K, Bastian BC, Toland AEAllele-specific imbalance mapping identifies HDAC9 as a candidate gene for cutaneous squamous cell carcinoma.Int J Cancer 134 244-8 1/1/2014
  • Senter L, O'Connor M, Oriyo F, Sweet K, Toland AELinking distant relatives with BRCA gene mutations: potential for cost savings.Clin Genet in press 5/31/2013
  • French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, Dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C, Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Peeters S, Smeets A, Floris G, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Sardella D, Couch FJ, Wang X, Pankratz VS, Lee A, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Ng CH, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devilee P, Seynaeve C, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Schoof N, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Balasubramanian SP, Blot W, Signorello LB, Cai Q, Pharoah PD, Healey CS, Shah M, Pooley KA, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Sng JH, Sim X, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, McKay J, Toland AE, Ambrosone CB, Yannoukakos D, Godwin AK, Shen CY, Hsiung CN, Wu PE, Chen ST, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Nevanlinna H, Brown MA, Chenevix-Trench G, Easton DF, Dunning AMFunctional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.Am J Hum Genet 92(4) 489-503 4/4/2013
  • Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DFLarge-scale genotyping identifies 41 new loci associated with breast cancer risk.Nat Genet 45(4) 353-61, 361e1-2 4/1/2013
  • Towler WI, Zhang J, Ransburgh DJ, Toland AE, Ishioka C, Chiba N, Parvin JDAnalysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.Hum Mutat 34(3) 439-45 3/1/2013
  • Hemminger JA, Ewart Toland A, Scharschmidt TJ, Mayerson JL, Kraybill WG, Guttridge DC, Iwenofu OHThe cancer-testis antigen NY-ESO-1 is highly expressed in myxoid and round cell subset of liposarcomas.Mod Pathol 26(2) 282-8 2/1/2013
  • Skeeles LE, Fleming JL, Mahler KL, Toland AEThe impact of 3'UTR variants on differential expression of candidate cancer susceptibility genes.PLoS One 8(3) e58609 1/1/2013
  • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Investigators K, Radice P, Schmutzler RK, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou ACGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.PLoS Genet 9(3) e1003212 1/1/2013
  • Fleming JL, Gable DL, Samadzadeh-Tarighat S, Cheng L, Yu L, Gillespie JL, Toland AEDifferential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice.PeerJ 1 e68 1/1/2013
  • Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Shimon-Paluch S, Kaufman B, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Ramony Cajal T, Stavropoulou AV, Benítez J, Hamann U, Rookus MA, Aalfs CM, de Lange J, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gomez-Garcia EB, Hoogerbrugge N, Jager A, van der Luijt RB, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak HB, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Leone M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Fert Ferrer S, Collonge-Rame MA, Sokolowska J, Buys SS, Daly MB, Miron A, Terry MB, Chung WK, John EM, Southey MC, Goldgar DE, Singer CF, Tea Maria MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson ME, Piedmonte M, Andrews L, Cohn DE, Demars LR, Disilvestro P, Rodriguez GC, Toland AE, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston LE, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel JN, Garber JE, Olopade FI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor NM, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SLA nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.Cancer Epidemiol Biomarkers Prev 21(8) 1362-70 8/1/2012
  • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM, Belgium Uv Consortium D, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A, Caputo S, Sinilnikova OM, Lidereau R, Couch FJ, Guidugli L, Hansen TV, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg A, Vreeswijk MP, Goldgar DEBRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.J Med Genet 49(8) 525-32 8/1/2012

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) 300 W. 10th Ave. Columbus, OH 43210 Phone: 1-800-293-5066 | Email: jamesline@osumc.edu