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- PMID: 24698998
- UKPMCID: 24698998
- DOI: 10.1371/journal.pgen.1004256
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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; DÃez, Orland; Ramón Y Cajal, Teresa; Konstantopoulou, Irene; MartÃnez-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; RodrÃguez, 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
PLoS genetics. 2014;10(4):e1004256.
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Full-text held externally
- PMID: 24698998
- UKPMCID: 24698998
- DOI: 10.1371/journal.pgen.1004256
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.
Bibliographic metadata
- Osorio, Ana
- Milne, Roger L
- Kuchenbaecker, Karoline
- Vaclová, Tereza
- Pita, Guillermo
- Alonso, Rosario
- Peterlongo, Paolo
- Blanco, Ignacio
- de la Hoya, Miguel
- Duran, Mercedes
- DÃez, Orland
- Ramón Y Cajal, Teresa
- Konstantopoulou, Irene
- MartÃnez-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
- RodrÃguez, 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
- 1 U19 CA 148537, NCI NIH HHS, United States
- 15007, Cancer Research UK, United Kingdom
- 1U01CA161032, NCI NIH HHS, United States
- 5U01CA113916, NCI NIH HHS, United States
- C12292/A11174, Cancer Research UK, United Kingdom
- C1287/A 10710, Canadian Institutes of Health Research, Canada
- C1287/A10118, Cancer Research UK, United Kingdom
- C1287/A11990, Cancer Research UK, United Kingdom
- C5047/A10692, PHS HHS, United States
- C5047/A15007, PHS HHS, United States
- C5047/A8384, Canadian Institutes of Health Research, Canada
- C5047/A8385, PHS HHS, United States
- CA 101165, NCI NIH HHS, United States
- CA 27469, NCI NIH HHS, United States
- CA 37517, NCI NIH HHS, United States
- CA116201, NCI NIH HHS, United States
- CA125183, NCI NIH HHS, United States
- CA128978, NCI NIH HHS, United States
- N02-CP-11019-50, NCI NIH HHS, United States
- N02-CP-65504, NCI NIH HHS, United States
- P30 CA016520, NCI NIH HHS, United States
- P30 CA033752, NCI NIH HHS, United States
- P30 CA168524, NCI NIH HHS, United States
- P50 CA116201, NCI NIH HHS, United States
- R01 CA142996, NCI NIH HHS, United States
- R01CA140323, NCI NIH HHS, United States
- R01CA74415, NCI NIH HHS, United States
- RC4 CA153828, NCI NIH HHS, United States
- RC4A153828, CCR NIH HHS, United States
- UM1 CA164920, NCI NIH HHS, United States