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-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.
| Original language | English |
|---|---|
| Article number | e1004256 |
| Journal | PLoS Genetics |
| Volume | 10 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2014 |
ASJC Scopus subject areas
- Genetics
- Molecular Biology
- Ecology, Evolution, Behavior and Systematics
- Cancer Research
- Genetics(clinical)
- Medicine(all)
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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; Díez, Orland; Ramón y Cajal, Teresa; Konstantopoulou, Irene; Martínez-Bouzas, Cristina; Andrés Conejero, Raquel; Soucy, Penny; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; 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; 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; 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.
In: PLoS Genetics, Vol. 10, No. 4, e1004256, 2014.Research output: Contribution to journal › Article › peer-review
}
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 - 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 - 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 - 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
Y1 - 2014
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-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-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.
UR - http://www.scopus.com/inward/record.url?scp=84901332067&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84901332067&partnerID=8YFLogxK
U2 - 10.1371/journal.pgen.1004256
DO - 10.1371/journal.pgen.1004256
M3 - Article
C2 - 24698998
AN - SCOPUS:84901332067
VL - 10
JO - PLoS Genetics
JF - PLoS Genetics
SN - 1553-7390
IS - 4
M1 - e1004256
ER -