Standard
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. / Osorio, Ana; Milne, Roger L; Kuchenbaecker, Karoline; Vaclová, Tereza; Pita, Guillermo; Alonso, Rosario; Peterlongo, Paolo; Blanco, Ignacio; de la Hoya, Miguel; Duran, Mercedes; Díez, Orland; Ramón Y Cajal, Teresa; Konstantopoulou, Irene; Martínez-Bouzas, Cristina; Andrés Conejero, Raquel; Soucy, Penny; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Swe-Brca; Arver, Brita; Rantala, Johanna; Loman, Niklas; Ehrencrona, Hans; Olopade, Olufunmilayo I; Beattie, Mary S; Domchek, Susan M; Nathanson, Katherine; Rebbeck, Timothy R; Arun, Banu K; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; John, Esther M; Whittemore, Alice S; Daly, Mary B; Southey, Melissa; Hopper, John; Terry, Mary B; Buys, Saundra S; Janavicius, Ramunas; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Steele, Linda; Neuhausen, Susan L; Ding, Yuan Chun; Hansen, Thomas V O; Jønson, Lars; Ejlertsen, Bent; Gerdes, Anne-Marie; Infante, Mar; Herráez, Belén; Moreno, Leticia Thais; Weitzel, Jeffrey N; Herzog, Josef; Weeman, Kisa; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Bonanni, Bernardo; Mariette, Frederique; Volorio, Sara; Viel, Alessandra; Varesco, Liliana; Papi, Laura; Ottini, Laura; Tibiletti, Maria Grazia; Radice, Paolo; Yannoukakos, Drakoulis; Garber, Judy; Ellis, Steve; Frost, Debra; Platte, Radka; Fineberg, Elena; Evans, Gareth; Lalloo, Fiona; Izatt, Louise; Eeles, Ros; Adlard, Julian; Davidson, Rosemarie; Cole, Trevor; Eccles, Diana; Cook, Jackie; Hodgson, Shirley; Brewer, Carole; Tischkowitz, Marc; Douglas, Fiona; Porteous, Mary; Side, Lucy; Walker, Lisa; Morrison, Patrick; Donaldson, Alan; Kennedy, John; Foo, Claire; Godwin, Andrew K; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hans Jörg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Gehrig, Andrea; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M; Mazoyer, Sylvie; Damiola, Francesca; Poppe, Bruce; Claes, Kathleen; Piedmonte, Marion; Tucker, Kathy; Backes, Floor; Rodríguez, Gustavo; Brewster, Wendy; Wakeley, Katie; Rutherford, Thomas; Caldés, Trinidad; Nevanlinna, Heli; Aittomäki, Kristiina; Rookus, Matti A; van Os, Theo A M; van der Kolk, Lizet; de Lange, J L; Meijers-Heijboer, Hanne E J; van der Hout, A H; van Asperen, Christi J; Gómez Garcia, Encarna B; Hoogerbrugge, Nicoline; Collée, J Margriet; van Deurzen, Carolien H M; van der Luijt, Rob B; Devilee, Peter; Hebon; Olah, Edith; Lázaro, Conxi; Teulé, Alex; Menéndez, Mireia; Jakubowska, Anna; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Johannsson, Oskar Th; Maugard, Christine; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R; Healey, Sue; Investigators, Kconfab; Olswold, Curtis; Guidugli, Lucia; Lindor, Noralane; Slager, Susan; Szabo, Csilla I; Vijai, Joseph; Robson, Mark; Kauff, Noah; Zhang, Liying; Rau-Murthy, Rohini; Fink-Retter, Anneliese; Singer, Christian F; Rappaport, Christine; Geschwantler Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng; Berger, Andreas; Phelan, Catherine M; Greene, Mark H; Mai, Phuong L; Lejbkowicz, Flavio; Andrulis, Irene; Mulligan, Anna Marie; Glendon, Gord; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Sunde, Lone; Thomassen, Mads; Kruse, Torben A; Jensen, Uffe Birk; Friedman, Eitan; Laitman, Yael; Shimon, Shani Paluch; Simard, Jacques; Easton, Douglas F; Offit, Kenneth; Couch, Fergus J; Chenevix-Trench, Georgia; Antoniou, Antonis C; Benitez, Javier.
I:
P L o S Genetics, Bind 10, Nr. 4, e1004256, 04.2014, s. 1-12.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
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, Swe-Brca, 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, A-M, 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, TAM, van der Kolk, L, de Lange, JL, Meijers-Heijboer, HEJ, van der Hout, AH, van Asperen, CJ, Gómez Garcia, EB, Hoogerbrugge, N, Collée, JM, van Deurzen, CHM, van der Luijt, RB, Devilee, P, Hebon, 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, Investigators, K, 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, M-K, 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 & Benitez, J 2014, '
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers',
P L o S Genetics, bind 10, nr. 4, e1004256, s. 1-12.
https://doi.org/10.1371/journal.pgen.1004256APA
Osorio, A., Milne, R. L., 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., ... Benitez, J. (2014).
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
P L o S Genetics,
10(4), 1-12. [e1004256].
https://doi.org/10.1371/journal.pgen.1004256Vancouver
Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R o.a.
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
P L o S Genetics. 2014 apr.;10(4):1-12. e1004256.
https://doi.org/10.1371/journal.pgen.1004256Author
Osorio, Ana ; Milne, Roger L ; Kuchenbaecker, Karoline ; Vaclová, Tereza ; Pita, Guillermo ; Alonso, Rosario ; Peterlongo, Paolo ; Blanco, Ignacio ; de la Hoya, Miguel ; Duran, Mercedes ; Díez, Orland ; Ramón Y Cajal, Teresa ; Konstantopoulou, Irene ; Martínez-Bouzas, Cristina ; Andrés Conejero, Raquel ; Soucy, Penny ; McGuffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Swe-Brca ; Arver, Brita ; Rantala, Johanna ; Loman, Niklas ; Ehrencrona, Hans ; Olopade, Olufunmilayo I ; Beattie, Mary S ; Domchek, Susan M ; Nathanson, Katherine ; Rebbeck, Timothy R ; Arun, Banu K ; Karlan, Beth Y ; Walsh, Christine ; Lester, Jenny ; John, Esther M ; Whittemore, Alice S ; Daly, Mary B ; Southey, Melissa ; Hopper, John ; Terry, Mary B ; Buys, Saundra S ; Janavicius, Ramunas ; Dorfling, Cecilia M ; van Rensburg, Elizabeth J ; Steele, Linda ; Neuhausen, Susan L ; Ding, Yuan Chun ; Hansen, Thomas V O ; Jønson, Lars ; Ejlertsen, Bent ; Gerdes, Anne-Marie ; Infante, Mar ; Herráez, Belén ; Moreno, Leticia Thais ; Weitzel, Jeffrey N ; Herzog, Josef ; Weeman, Kisa ; Manoukian, Siranoush ; Peissel, Bernard ; Zaffaroni, Daniela ; Scuvera, Giulietta ; Bonanni, Bernardo ; Mariette, Frederique ; Volorio, Sara ; Viel, Alessandra ; Varesco, Liliana ; Papi, Laura ; Ottini, Laura ; Tibiletti, Maria Grazia ; Radice, Paolo ; Yannoukakos, Drakoulis ; Garber, Judy ; Ellis, Steve ; Frost, Debra ; Platte, Radka ; Fineberg, Elena ; Evans, Gareth ; Lalloo, Fiona ; Izatt, Louise ; Eeles, Ros ; Adlard, Julian ; Davidson, Rosemarie ; Cole, Trevor ; Eccles, Diana ; Cook, Jackie ; Hodgson, Shirley ; Brewer, Carole ; Tischkowitz, Marc ; Douglas, Fiona ; Porteous, Mary ; Side, Lucy ; Walker, Lisa ; Morrison, Patrick ; Donaldson, Alan ; Kennedy, John ; Foo, Claire ; Godwin, Andrew K ; Schmutzler, Rita Katharina ; Wappenschmidt, Barbara ; Rhiem, Kerstin ; Engel, Christoph ; Meindl, Alfons ; Ditsch, Nina ; Arnold, Norbert ; Plendl, Hans Jörg ; Niederacher, Dieter ; Sutter, Christian ; Wang-Gohrke, Shan ; Steinemann, Doris ; Preisler-Adams, Sabine ; Kast, Karin ; Varon-Mateeva, Raymonda ; Gehrig, Andrea ; Stoppa-Lyonnet, Dominique ; Sinilnikova, Olga M ; Mazoyer, Sylvie ; Damiola, Francesca ; Poppe, Bruce ; Claes, Kathleen ; Piedmonte, Marion ; Tucker, Kathy ; Backes, Floor ; Rodríguez, Gustavo ; Brewster, Wendy ; Wakeley, Katie ; Rutherford, Thomas ; Caldés, Trinidad ; Nevanlinna, Heli ; Aittomäki, Kristiina ; Rookus, Matti A ; van Os, Theo A M ; van der Kolk, Lizet ; de Lange, J L ; Meijers-Heijboer, Hanne E J ; van der Hout, A H ; van Asperen, Christi J ; Gómez Garcia, Encarna B ; Hoogerbrugge, Nicoline ; Collée, J Margriet ; van Deurzen, Carolien H M ; van der Luijt, Rob B ; Devilee, Peter ; Hebon ; Olah, Edith ; Lázaro, Conxi ; Teulé, Alex ; Menéndez, Mireia ; Jakubowska, Anna ; Cybulski, Cezary ; Gronwald, Jacek ; Lubinski, Jan ; Durda, Katarzyna ; Jaworska-Bieniek, Katarzyna ; Johannsson, Oskar Th ; Maugard, Christine ; Montagna, Marco ; Tognazzo, Silvia ; Teixeira, Manuel R ; Healey, Sue ; Investigators, Kconfab ; Olswold, Curtis ; Guidugli, Lucia ; Lindor, Noralane ; Slager, Susan ; Szabo, Csilla I ; Vijai, Joseph ; Robson, Mark ; Kauff, Noah ; Zhang, Liying ; Rau-Murthy, Rohini ; Fink-Retter, Anneliese ; Singer, Christian F ; Rappaport, Christine ; Geschwantler Kaulich, Daphne ; Pfeiler, Georg ; Tea, Muy-Kheng ; Berger, Andreas ; Phelan, Catherine M ; Greene, Mark H ; Mai, Phuong L ; Lejbkowicz, Flavio ; Andrulis, Irene ; Mulligan, Anna Marie ; Glendon, Gord ; Toland, Amanda Ewart ; Bojesen, Anders ; Pedersen, Inge Sokilde ; Sunde, Lone ; Thomassen, Mads ; Kruse, Torben A ; Jensen, Uffe Birk ; Friedman, Eitan ; Laitman, Yael ; Shimon, Shani Paluch ; Simard, Jacques ; Easton, Douglas F ; Offit, Kenneth ; Couch, Fergus J ; Chenevix-Trench, Georgia ; Antoniou, Antonis C ; Benitez, Javier. / DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. I: P L o S Genetics. 2014 ; Bind 10, Nr. 4. s. 1-12.
Bibtex
@article{f1857a4e59004f2eb5ad7b04d0192079,
title = "DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers",
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.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Glycosylases, DNA Repair, Female, Genetic Predisposition to Disease, Genotype, Humans, Middle Aged, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Risk",
author = "Ana Osorio and Milne, {Roger L} and Karoline Kuchenbaecker and Tereza Vaclov{\'a} and Guillermo Pita and Rosario Alonso and Paolo Peterlongo and Ignacio Blanco and {de la Hoya}, Miguel and Mercedes Duran and Orland D{\'i}ez and {Ram{\'o}n Y Cajal}, Teresa and Irene Konstantopoulou and Cristina Mart{\'i}nez-Bouzas and {Andr{\'e}s Conejero}, Raquel and Penny Soucy and Lesley McGuffog and Daniel Barrowdale and Andrew Lee and Swe-Brca and Brita Arver and Johanna Rantala and Niklas Loman and Hans Ehrencrona and Olopade, {Olufunmilayo I} and Beattie, {Mary S} and Domchek, {Susan M} and Katherine Nathanson and Rebbeck, {Timothy R} and Arun, {Banu K} and Karlan, {Beth Y} and Christine Walsh and Jenny Lester and John, {Esther M} and Whittemore, {Alice S} and Daly, {Mary B} and Melissa Southey and John Hopper and Terry, {Mary B} and Buys, {Saundra S} and Ramunas Janavicius and Dorfling, {Cecilia M} and {van Rensburg}, {Elizabeth J} and Linda Steele and Neuhausen, {Susan L} and Ding, {Yuan Chun} and Hansen, {Thomas V O} and Lars J{\o}nson and Bent Ejlertsen and Anne-Marie Gerdes and Mar Infante and Bel{\'e}n Herr{\'a}ez and Moreno, {Leticia Thais} and Weitzel, {Jeffrey N} and Josef Herzog and Kisa Weeman and Siranoush Manoukian and Bernard Peissel and Daniela Zaffaroni and Giulietta Scuvera and Bernardo Bonanni and Frederique Mariette and Sara Volorio and Alessandra Viel and Liliana Varesco and Laura Papi and Laura Ottini and Tibiletti, {Maria Grazia} and Paolo Radice and Drakoulis Yannoukakos and Judy Garber and Steve Ellis and Debra Frost and Radka Platte and Elena Fineberg and Gareth Evans and Fiona Lalloo and Louise Izatt and Ros Eeles and Julian Adlard and Rosemarie Davidson and Trevor Cole and Diana Eccles and Jackie Cook and Shirley Hodgson and Carole Brewer and Marc Tischkowitz and Fiona Douglas and Mary Porteous and Lucy Side and Lisa Walker and Patrick Morrison and Alan Donaldson and John Kennedy and Claire Foo and Godwin, {Andrew K} and Schmutzler, {Rita Katharina} and Barbara Wappenschmidt and Kerstin Rhiem and Christoph Engel and Alfons Meindl and Nina Ditsch and Norbert Arnold and Plendl, {Hans J{\"o}rg} and Dieter Niederacher and Christian Sutter and Shan Wang-Gohrke and Doris Steinemann and Sabine Preisler-Adams and Karin Kast and Raymonda Varon-Mateeva and Andrea Gehrig and Dominique Stoppa-Lyonnet and Sinilnikova, {Olga M} and Sylvie Mazoyer and Francesca Damiola and Bruce Poppe and Kathleen Claes and Marion Piedmonte and Kathy Tucker and Floor Backes and Gustavo Rodr{\'i}guez and Wendy Brewster and Katie Wakeley and Thomas Rutherford and Trinidad Cald{\'e}s and Heli Nevanlinna and Kristiina Aittom{\"a}ki and Rookus, {Matti A} and {van Os}, {Theo A M} and {van der Kolk}, Lizet and {de Lange}, {J L} and Meijers-Heijboer, {Hanne E J} and {van der Hout}, {A H} and {van Asperen}, {Christi J} and {G{\'o}mez Garcia}, {Encarna B} and Nicoline Hoogerbrugge and Coll{\'e}e, {J Margriet} and {van Deurzen}, {Carolien H M} and {van der Luijt}, {Rob B} and Peter Devilee and Hebon and Edith Olah and Conxi L{\'a}zaro and Alex Teul{\'e} and Mireia Men{\'e}ndez and Anna Jakubowska and Cezary Cybulski and Jacek Gronwald and Jan Lubinski and Katarzyna Durda and Katarzyna Jaworska-Bieniek and Johannsson, {Oskar Th} and Christine Maugard and Marco Montagna and Silvia Tognazzo and Teixeira, {Manuel R} and Sue Healey and Kconfab Investigators and Curtis Olswold and Lucia Guidugli and Noralane Lindor and Susan Slager and Szabo, {Csilla I} and Joseph Vijai and Mark Robson and Noah Kauff and Liying Zhang and Rohini Rau-Murthy and Anneliese Fink-Retter and Singer, {Christian F} and Christine Rappaport and {Geschwantler Kaulich}, Daphne and Georg Pfeiler and Muy-Kheng Tea and Andreas Berger and Phelan, {Catherine M} and Greene, {Mark H} and Mai, {Phuong L} and Flavio Lejbkowicz and Irene Andrulis and Mulligan, {Anna Marie} and Gord Glendon and Toland, {Amanda Ewart} and Anders Bojesen and Pedersen, {Inge Sokilde} and Lone Sunde and Mads Thomassen and Kruse, {Torben A} and Jensen, {Uffe Birk} and Eitan Friedman and Yael Laitman and Shimon, {Shani Paluch} and Jacques Simard and Easton, {Douglas F} and Kenneth Offit and Couch, {Fergus J} and Georgia Chenevix-Trench and Antoniou, {Antonis C} and Javier Benitez",
year = "2014",
month = apr,
doi = "10.1371/journal.pgen.1004256",
language = "English",
volume = "10",
pages = "1--12",
journal = "P L o S Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "4",
}
RIS
TY - JOUR
T1 - DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
AU - Osorio, Ana
AU - Milne, Roger L
AU - Kuchenbaecker, Karoline
AU - Vaclová, Tereza
AU - Pita, Guillermo
AU - Alonso, Rosario
AU - Peterlongo, Paolo
AU - Blanco, Ignacio
AU - de la Hoya, Miguel
AU - Duran, Mercedes
AU - Díez, Orland
AU - Ramón Y Cajal, Teresa
AU - Konstantopoulou, Irene
AU - Martínez-Bouzas, Cristina
AU - Andrés Conejero, Raquel
AU - Soucy, Penny
AU - McGuffog, Lesley
AU - Barrowdale, Daniel
AU - Lee, Andrew
AU - Swe-Brca, null
AU - Arver, Brita
AU - Rantala, Johanna
AU - Loman, Niklas
AU - Ehrencrona, Hans
AU - Olopade, Olufunmilayo I
AU - Beattie, Mary S
AU - Domchek, Susan M
AU - Nathanson, Katherine
AU - Rebbeck, Timothy R
AU - Arun, Banu K
AU - Karlan, Beth Y
AU - Walsh, Christine
AU - Lester, Jenny
AU - John, Esther M
AU - Whittemore, Alice S
AU - Daly, Mary B
AU - Southey, Melissa
AU - Hopper, John
AU - Terry, Mary B
AU - Buys, Saundra S
AU - Janavicius, Ramunas
AU - Dorfling, Cecilia M
AU - van Rensburg, Elizabeth J
AU - Steele, Linda
AU - Neuhausen, Susan L
AU - Ding, Yuan Chun
AU - Hansen, Thomas V O
AU - Jønson, Lars
AU - Ejlertsen, Bent
AU - Gerdes, Anne-Marie
AU - Infante, Mar
AU - Herráez, Belén
AU - Moreno, Leticia Thais
AU - Weitzel, Jeffrey N
AU - Herzog, Josef
AU - Weeman, Kisa
AU - Manoukian, Siranoush
AU - Peissel, Bernard
AU - Zaffaroni, Daniela
AU - Scuvera, Giulietta
AU - Bonanni, Bernardo
AU - Mariette, Frederique
AU - Volorio, Sara
AU - Viel, Alessandra
AU - Varesco, Liliana
AU - Papi, Laura
AU - Ottini, Laura
AU - Tibiletti, Maria Grazia
AU - Radice, Paolo
AU - Yannoukakos, Drakoulis
AU - Garber, Judy
AU - Ellis, Steve
AU - Frost, Debra
AU - Platte, Radka
AU - Fineberg, Elena
AU - Evans, Gareth
AU - Lalloo, Fiona
AU - Izatt, Louise
AU - Eeles, Ros
AU - Adlard, Julian
AU - Davidson, Rosemarie
AU - Cole, Trevor
AU - Eccles, Diana
AU - Cook, Jackie
AU - Hodgson, Shirley
AU - Brewer, Carole
AU - Tischkowitz, Marc
AU - Douglas, Fiona
AU - Porteous, Mary
AU - Side, Lucy
AU - Walker, Lisa
AU - Morrison, Patrick
AU - Donaldson, Alan
AU - Kennedy, John
AU - Foo, Claire
AU - Godwin, Andrew K
AU - Schmutzler, Rita Katharina
AU - Wappenschmidt, Barbara
AU - Rhiem, Kerstin
AU - Engel, Christoph
AU - Meindl, Alfons
AU - Ditsch, Nina
AU - Arnold, Norbert
AU - Plendl, Hans Jörg
AU - Niederacher, Dieter
AU - Sutter, Christian
AU - Wang-Gohrke, Shan
AU - Steinemann, Doris
AU - Preisler-Adams, Sabine
AU - Kast, Karin
AU - Varon-Mateeva, Raymonda
AU - Gehrig, Andrea
AU - Stoppa-Lyonnet, Dominique
AU - Sinilnikova, Olga M
AU - Mazoyer, Sylvie
AU - Damiola, Francesca
AU - Poppe, Bruce
AU - Claes, Kathleen
AU - Piedmonte, Marion
AU - Tucker, Kathy
AU - Backes, Floor
AU - Rodríguez, Gustavo
AU - Brewster, Wendy
AU - Wakeley, Katie
AU - Rutherford, Thomas
AU - Caldés, Trinidad
AU - Nevanlinna, Heli
AU - Aittomäki, Kristiina
AU - Rookus, Matti A
AU - van Os, Theo A M
AU - van der Kolk, Lizet
AU - de Lange, J L
AU - Meijers-Heijboer, Hanne E J
AU - van der Hout, A H
AU - van Asperen, Christi J
AU - Gómez Garcia, Encarna B
AU - Hoogerbrugge, Nicoline
AU - Collée, J Margriet
AU - van Deurzen, Carolien H M
AU - van der Luijt, Rob B
AU - Devilee, Peter
AU - Hebon, null
AU - Olah, Edith
AU - Lázaro, Conxi
AU - Teulé, Alex
AU - Menéndez, Mireia
AU - Jakubowska, Anna
AU - Cybulski, Cezary
AU - Gronwald, Jacek
AU - Lubinski, Jan
AU - Durda, Katarzyna
AU - Jaworska-Bieniek, Katarzyna
AU - Johannsson, Oskar Th
AU - Maugard, Christine
AU - Montagna, Marco
AU - Tognazzo, Silvia
AU - Teixeira, Manuel R
AU - Healey, Sue
AU - Investigators, Kconfab
AU - Olswold, Curtis
AU - Guidugli, Lucia
AU - Lindor, Noralane
AU - Slager, Susan
AU - Szabo, Csilla I
AU - Vijai, Joseph
AU - Robson, Mark
AU - Kauff, Noah
AU - Zhang, Liying
AU - Rau-Murthy, Rohini
AU - Fink-Retter, Anneliese
AU - Singer, Christian F
AU - Rappaport, Christine
AU - Geschwantler Kaulich, Daphne
AU - Pfeiler, Georg
AU - Tea, Muy-Kheng
AU - Berger, Andreas
AU - Phelan, Catherine M
AU - Greene, Mark H
AU - Mai, Phuong L
AU - Lejbkowicz, Flavio
AU - Andrulis, Irene
AU - Mulligan, Anna Marie
AU - Glendon, Gord
AU - Toland, Amanda Ewart
AU - Bojesen, Anders
AU - Pedersen, Inge Sokilde
AU - Sunde, Lone
AU - Thomassen, Mads
AU - Kruse, Torben A
AU - Jensen, Uffe Birk
AU - Friedman, Eitan
AU - Laitman, Yael
AU - Shimon, Shani Paluch
AU - Simard, Jacques
AU - Easton, Douglas F
AU - Offit, Kenneth
AU - Couch, Fergus J
AU - Chenevix-Trench, Georgia
AU - Antoniou, Antonis C
AU - Benitez, Javier
PY - 2014/4
Y1 - 2014/4
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - BRCA1 Protein
KW - BRCA2 Protein
KW - Breast Neoplasms
KW - DNA Glycosylases
KW - DNA Repair
KW - Female
KW - Genetic Predisposition to Disease
KW - Genotype
KW - Humans
KW - Middle Aged
KW - Ovarian Neoplasms
KW - Polymorphism, Single Nucleotide
KW - Risk
U2 - 10.1371/journal.pgen.1004256
DO - 10.1371/journal.pgen.1004256
M3 - Journal article
C2 - 24698998
VL - 10
SP - 1
EP - 12
JO - P L o S Genetics
JF - P L o S Genetics
SN - 1553-7390
IS - 4
M1 - e1004256
ER -
