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1. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Osorio, A, Milne, RL, Kuchenbaecker, K, Vaclová, T, Pita, G, Alonso, R, Peterlongo, P, Blanco, I, de la Hoya, M, Duran, M, Díez, O, Ramón y Cajal, T, Konstantopoulou, I, Martínez-Bouzas, C, Andrés Conejero, R, Soucy, P, McGuffog, L, Barrowdale, D, Lee, A, Arver, B, Rantala, J, Loman, N, Ehrencrona, H, Olopade, OI, Beattie, MS, Domchek, SM, Nathanson, K, Rebbeck, TR, Arun, BK, Karlan, BY, Walsh, C, Lester, J, John, EM, Whittemore, AS, Daly, MB, Southey, M, Hopper, J, Terry, MB, Buys, SS, Janavicius, R, Dorfling, CM, van Rensburg, EJ, Steele, L, Neuhausen, SL, Ding, YC, Hansen, TVO, Jønson, L, Ejlertsen, B, Gerdes, AM, Infante, M, Herráez, B, Moreno, LT, Weitzel, JN, Herzog, J, Weeman, K, Manoukian, S, Peissel, B, Zaffaroni, D, Scuvera, G, Bonanni, B, Mariette, F, Volorio, S, Viel, A, Varesco, L, Papi, L, Ottini, L, Tibiletti, MG, Radice, P, Yannoukakos, D, Garber, J, Ellis, S, Frost, D, Platte, R, Fineberg, E, Evans, G, Lalloo, F, Izatt, L, Eeles, R, Adlard, J, Davidson, R, Cole, T, Eccles, D, Cook, J, Hodgson, S, Brewer, C, Tischkowitz, M, Douglas, F, Porteous, M, Side, L, Walker, L, Morrison, P, Donaldson, A, Kennedy, J, Foo, C, Godwin, AK, Schmutzler, RK, Wappenschmidt, B, Rhiem, K, and Engel, C

Subjects
endocrine system diseases, skin and connective tissue diseases
Abstract

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p

Published
2014
Full Text
View/download PDF

2. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Author

Osorio, A., Milne, R.L., Kuchenbaecker, K., Vaclova, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., Hoya, M. de la, Duran, M., Diez, O., Ramon, Y.C.T., Konstantopoulou, I., Martinez-Bouzas, C., Conejero, R. Andres, Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe, B., Arver, B., Rantala, J., Loman, N., Ehrencrona, H., Olopade, O.I., Beattie, M.S., Domchek, S.M., Nathanson, K., Rebbeck, T.R., Arun, B.K., Karlan, B.Y., Walsh, C., Lester, J., John, E.M., Whittemore, A.S., Daly, M.B., Southey, M., Hopper, J., Terry, M.B., Buys, S.S., Janavicius, R., Dorfling, C.M., Rensburg, E.J. van, Steele, L., Neuhausen, S.L., Ding, Y.C., Hansen, T.V., Jonson, L., Ejlertsen, B., Gerdes, A.M., Infante, M., Herraez, B., Moreno, L.T., Weitzel, J.N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M.G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A.K., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Engel, C., Hoogerbrugge-van der Linden, N., et al., Osorio, A., Milne, R.L., Kuchenbaecker, K., Vaclova, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., Hoya, M. de la, Duran, M., Diez, O., Ramon, Y.C.T., Konstantopoulou, I., Martinez-Bouzas, C., Conejero, R. Andres, Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe, B., Arver, B., Rantala, J., Loman, N., Ehrencrona, H., Olopade, O.I., Beattie, M.S., Domchek, S.M., Nathanson, K., Rebbeck, T.R., Arun, B.K., Karlan, B.Y., Walsh, C., Lester, J., John, E.M., Whittemore, A.S., Daly, M.B., Southey, M., Hopper, J., Terry, M.B., Buys, S.S., Janavicius, R., Dorfling, C.M., Rensburg, E.J. van, Steele, L., Neuhausen, S.L., Ding, Y.C., Hansen, T.V., Jonson, L., Ejlertsen, B., Gerdes, A.M., Infante, M., Herraez, B., Moreno, L.T., Weitzel, J.N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M.G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A.K., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Engel, C., Hoogerbrugge-van der Linden, N., and et al.

Abstract

Contains fulltext : 137733.pdf (publisher's version ) (Open Access), Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 x 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 x 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.

Published
2014

3. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Osorio, A. (Ana), Milne, R.L. (Roger), Kuchenbaecker, K.B. (Karoline), Vaclová, T. (Tereza), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Peterlongo, P. (Paolo), Blanco, I. (Ignacio), Hoya, M. (Miguel) de La, Durán, M. (Mercedes), Díez, O. (Orland), Ramon Y Cajal, T., Konstantopoulou, I. (I.), Martínez-Bouzas, C. (Cristina), Andrés Conejero, R. (Raquel), Soucy, P. (Penny), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Arver, B. (Brita Wasteson), Rantala, J. (Johanna), Loman, N. (Niklas), Ehrencrona, H. (Hans), Olopade, O.I. (Olofunmilayo), Beattie, M.S. (Mary), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), John, E.M. (Esther), Whittemore, A.S. (Alice), Daly, M.B. (Mary), Southey, M.C. (Melissa), Hopper, J.L. (John), Terry, M.-B. (Mary-Beth), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Infante, J. (Jon), Herráez, B. (Belén), Moreno, L.T. (Leticia Thais), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Weeman, K. (Kisa), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Bonnani, B. (Bernardo), Mariette, F. (F.), Volorio, S. (Sara), Viel, A. (Alessandra), Varesco, L. (Liliana), Papi, L. (Laura), Ottini, L. (Laura), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Yannoukakos, D. (Drakoulis), Garber, J., Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Eccles, D. (Diana), Cook, J. (Jackie), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Tischkowitz, M. (Marc), Douglas, F. (Fiona), Porteous, M.E. (Mary), Side, L. (Lucy), Walker, L.J. (Lisa), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Kennedy, J. (John), Foo, C. (Claire), Godwin, A.K. (Andrew), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Damiola, F. (Francesca), Poppe, B. (Bruce), Claes, K. (Kathleen), Piedmonte, M. (Marion), Tucker, K. (Kathryn), Backes, F.J. (Floor), Rodríguez, P.M., Brewster, W. (Wendy), Wakeley, K. (Katie), Rutherford, T. (Thomas), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Rookus, M.A. (Matti), Os, T.A.M. (Theo) van, Kolk, L.E. (Lizet) van der, Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Luijt, R.B. (Rob) van der, Devilee, P. (Peter), Olah, E. (Edith), Lázaro, C. (Conxi), Teulé, A. (A.), Menéndez, M. (Mireia), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Johannson, O.T. (Oskar), Maugard, C., Montagna, M. (Marco), Tognazzo, S. (Silvia), Teixeira, P.J., Healey, S. (Sue), Olswold, C. (Curtis), Guidugli, L. (Lucia), Lindor, N.M. (Noralane), Slager, S. (Susan), Szabo, C. (Csilla), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Zhang, L. (Lingling), Rau-Murthy, R. (Rohini), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Annemarie), Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Lejbkowicz, F. (Flavio), Andrulis, I.L. (Irene), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Toland, A.E. (Amanda), Bojesen, S.E. (Stig), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.P. (Shani Paluch), Simard, J. (Jacques), Easton, D.F. (Douglas), Offit, K. (Kenneth), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Benítez, J. (Javier), Osorio, A. (Ana), Milne, R.L. (Roger), Kuchenbaecker, K.B. (Karoline), Vaclová, T. (Tereza), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Peterlongo, P. (Paolo), Blanco, I. (Ignacio), Hoya, M. (Miguel) de La, Durán, M. (Mercedes), Díez, O. (Orland), Ramon Y Cajal, T., Konstantopoulou, I. (I.), Martínez-Bouzas, C. (Cristina), Andrés Conejero, R. (Raquel), Soucy, P. (Penny), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Arver, B. (Brita Wasteson), Rantala, J. (Johanna), Loman, N. (Niklas), Ehrencrona, H. (Hans), Olopade, O.I. (Olofunmilayo), Beattie, M.S. (Mary), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), John, E.M. (Esther), Whittemore, A.S. (Alice), Daly, M.B. (Mary), Southey, M.C. (Melissa), Hopper, J.L. (John), Terry, M.-B. (Mary-Beth), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Infante, J. (Jon), Herráez, B. (Belén), Moreno, L.T. (Leticia Thais), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Weeman, K. (Kisa), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Bonnani, B. (Bernardo), Mariette, F. (F.), Volorio, S. (Sara), Viel, A. (Alessandra), Varesco, L. (Liliana), Papi, L. (Laura), Ottini, L. (Laura), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Yannoukakos, D. (Drakoulis), Garber, J., Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Eccles, D. (Diana), Cook, J. (Jackie), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Tischkowitz, M. (Marc), Douglas, F. (Fiona), Porteous, M.E. (Mary), Side, L. (Lucy), Walker, L.J. (Lisa), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Kennedy, J. (John), Foo, C. (Claire), Godwin, A.K. (Andrew), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Damiola, F. (Francesca), Poppe, B. (Bruce), Claes, K. (Kathleen), Piedmonte, M. (Marion), Tucker, K. (Kathryn), Backes, F.J. (Floor), Rodríguez, P.M., Brewster, W. (Wendy), Wakeley, K. (Katie), Rutherford, T. (Thomas), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Rookus, M.A. (Matti), Os, T.A.M. (Theo) van, Kolk, L.E. (Lizet) van der, Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Luijt, R.B. (Rob) van der, Devilee, P. (Peter), Olah, E. (Edith), Lázaro, C. (Conxi), Teulé, A. (A.), Menéndez, M. (Mireia), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Johannson, O.T. (Oskar), Maugard, C., Montagna, M. (Marco), Tognazzo, S. (Silvia), Teixeira, P.J., Healey, S. (Sue), Olswold, C. (Curtis), Guidugli, L. (Lucia), Lindor, N.M. (Noralane), Slager, S. (Susan), Szabo, C. (Csilla), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Zhang, L. (Lingling), Rau-Murthy, R. (Rohini), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Annemarie), Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Lejbkowicz, F. (Flavio), Andrulis, I.L. (Irene), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Toland, A.E. (Amanda), Bojesen, S.E. (Stig), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.P. (Shani Paluch), Simard, J. (Jacques), Easton, D.F. (Douglas), Offit, K. (Kenneth), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), and Benítez, J. (Javier)

Abstract

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.1

Published
2014
Full Text
View/download PDF

4. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Author

Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, and Benitez J

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Middle Aged, Risk, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, DNA Glycosylases genetics, DNA Repair genetics, Ovarian Neoplasms genetics, Polymorphism, Single Nucleotide genetics
Abstract

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.

Published
2014
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5. Lack of utility of the lysis-centrifugation blood culture method for detection of fungemia in immunocompromised cancer patients.

Author

Creger RJ, Weeman KE, Jacobs MR, Morrissey A, Parker P, Fox RM, and Lazarus HM

Subjects
Adult, Aged, Centrifugation, Female, Humans, Immunocompromised Host, Male, Middle Aged, Neutropenia complications, Retrospective Studies, Fungemia diagnosis, Fungi isolation & purification, Neoplasms immunology
Abstract

We retrospectively compared the utility of a fungal isolation device (Isolator) versus conventional techniques for recovering fungal organisms from blood cultures obtained from neutropenic cancer patients. Positive cultures were deemed true pathogens, possible pathogens, or contaminants according to laboratory and clinical criteria. Fifty-three patients had 66 positive blood cultures for fungi, nine on multiple occasions. In 20 episodes true pathogens were recovered, 6 from broth medium alone, 4 from the Isolator system alone, and 10 from both systems. False-negative cultures were noted in 4 of 20 (20%) cases in which broth medium was used and in 6 of 20 (30%) cases in which the Isolator system was used. Possible pathogens were detected in 4 of 66 blood culture-positive cases. Forty-two positive cultures were considered contaminants, 1 collected from standard medium and 41 of 42 (98%) which grew only in Isolators. Eleven of 18 patients with true fungal infections expired as a result of infection, while 4 of 33 patients with a contaminant expired, none from a fungal cause. We do not advocate the routine use of Isolator tubes in the evaluation of the febrile, neutropenic patient due to the high rates of false positives and of contamination.

Published
1998
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