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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. © 2014.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers / Ana, Osorio; Roger L., Milne; Karoline, Kuchenbaecker; Tereza, Vaclova; Guillermo, Pita; Rosario, Alonso; Paolo, Peterlongo; Ignacio, Blanco; Miguel De La, Hoya; Mercedes, Duran; Orland, Diez; Teresa Ramon Y., Cajal; Irene, Konstantopoulou; Cristina Martinez, Bouzas; Raquel Andres, Conejero; Penny, Soucy; Lesley, Mcguffog; Daniel, Barrowdale; Andrew, Lee; Swe, Brca; Brita, Arver; Johanna, Rantala; Niklas, Loman; Hans, Ehrencrona; Olufunmilayo I., Olopade; Mary S., Beattie; Susan M., Domchek; Katherine, Nathanson; Timothy R., Rebbeck; Banu K., Arun; Beth Y., Karlan; Christine, Walsh; Jenny, Lester; John, Em; Alice S., Whittemore; Mary B., Daly; Melissa, Southey; John, Hopper; Terry, Mb; Saundra S., Buys; Ramunas, Janavicius; Cecilia M., Dorfling; Elizabeth J., Van Rensburg; Linda, Steele; Susan L., Neuhausen; Yuan Chun, Ding; Thomas V. O., Hansen; Lars, Jønson; Bent, Ejlertsen; Anne Marie, Gerdes; Mar, Infante; Belen, Herraez; Leticia Thais, Moreno; Jeffrey N., Weitzel; Josef, Herzog; Kisa, Weeman; Siranoush, Manoukian; Bernard, Peissel; Daniela, Zaffaroni; Giulietta, Scuvera; Bernardo, Bonanni; Frederique, Mariette; Sara, Volorio; Alessandra, Viel; Liliana, Varesco; Laura, Papi; Ottini, Laura; Maria Grazia, Tibiletti; Paolo, Radice; Drakoulis, Yannoukakos; Judy, Garber; Steve, Ellis; Debra, Frost; Radka, Platte; Elena, Fineberg; Gareth, Evans; Fiona, Lalloo; Louise, Izatt; Ros, Eeles; Julian, Adlard; Rosemarie, Davidson; Trevor, Cole; Diana, Eccles; Jackie, Cook; Shirley, Hodgson; Carole, Brewer; Marc, Tischkowitz; Fiona, Douglas; Mary, Porteous; Lucy, Side; Lisa, Walker; Patrick, Morrison; Alan, Donaldson; John, Kennedy; Claire, Foo; Andrew K., Godwin; Rita Katharina, Schmutzler; Barbara, Wappenschmidt; Kerstin, Rhiem; Christoph, Engel; Alfons, Meindl; Nina, Ditsch; Norbert, Arnold; Hans Jorg, Plendl; Dieter, Niederacher; Christian, Sutter; Shan Wang, Gohrke; Doris, Steinemann; Sabine Preisler, Adams; Karin, Kast; Raymonda Varon, Mateeva; Andrea, Gehrig; Dominique Stoppa, Lyonnet; Olga M., Sinilnikova; Sylvie, Mazoyer; Francesca, Damiola; Bruce, Poppe; Kathleen, Claes; Marion, Piedmonte; Kathy, Tucker; Floor, Backes; Gustavo, Rodriguez; Wendy, Brewster; Katie, Wakeley; Thomas, Rutherford; Trinidad, Caldes; Heli, Nevanlinna; Kristiina, Aittomaki; Matti A., Rookus; Theo A. M., Van Os; Lizet Van Der, Kolk; J. L., De Lange; Hanne E. J., Meijers Heijboer; A. H., Van Der Hout; Christi J., Van Asperen; Encarna B., Gomez Garcia; Nicoline, Hoogerbrugge; J., Margriet Collee; Carolien H. M., Van Deurzen; Rob B., Van Der Luijt; Peter, Devilee; Hebon, ; Edith, Olah; Conxi, Lazaro; Alex, Teule; Mireia, Menendez; Anna, Jakubowska; Cezary, Cybulski; Jacek, Gronwald; Jan, Lubinski; Katarzyna, Durda; Katarzyna Jaworska, Bieniek; Oskar Th, Johannsson; Christine, Maugard; Marco, Montagna; Silvia, Tognazzo; Manuel R., Teixeira; Sue, Healey; Kconfab, Investigators; Curtis, Olswold; Lucia, Guidugli; Noralane, Lindor; Susan, Slager; Csilla I., Szabo; Joseph, Vijai; Mark, Robson; Noah, Kauff; Liying, Zhang; Rohini Rau, Murthy; Anneliese Fink, Retter; Christian F., Singer; Christine, Rappaport; Daphne Geschwantler, Kaulich; Georg, Pfeiler; Muy Kheng, Tea; Andreas, Berger; Catherine M., Phelan; Mark H., Greene; Phuong L., Mai; Flavio, Lejbkowicz; Irene, Andrulis; Anna Marie, Mulligan; Gord, Glendon; Amanda Ewart, Toland; Anders, Bojesen; Inge Sokilde, Pedersen; Lone, Sunde; Mads, Thomassen; Torben A., Kruse; Uffe Birk, Jensen; Eitan, Friedman; Yael, Laitman; Shani Paluch, Shimon; Jacques, Simard; Douglas F., Easton; Kenneth, Offit; Fergus J., Couch; Georgia Chenevix, Trench; Antonis C., Antoniou; Javier, Benitez. - In: PLOS GENETICS. - ISSN 1553-7390. - 10:4(2014), pp. e1004256-1-e1004256-12. [10.1371/journal.pgen.1004256]

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

OTTINI, LAURA;
2014

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. © 2014.
2014
01 Pubblicazione su rivista::01a Articolo in rivista
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers / Ana, Osorio; Roger L., Milne; Karoline, Kuchenbaecker; Tereza, Vaclova; Guillermo, Pita; Rosario, Alonso; Paolo, Peterlongo; Ignacio, Blanco; Miguel De La, Hoya; Mercedes, Duran; Orland, Diez; Teresa Ramon Y., Cajal; Irene, Konstantopoulou; Cristina Martinez, Bouzas; Raquel Andres, Conejero; Penny, Soucy; Lesley, Mcguffog; Daniel, Barrowdale; Andrew, Lee; Swe, Brca; Brita, Arver; Johanna, Rantala; Niklas, Loman; Hans, Ehrencrona; Olufunmilayo I., Olopade; Mary S., Beattie; Susan M., Domchek; Katherine, Nathanson; Timothy R., Rebbeck; Banu K., Arun; Beth Y., Karlan; Christine, Walsh; Jenny, Lester; John, Em; Alice S., Whittemore; Mary B., Daly; Melissa, Southey; John, Hopper; Terry, Mb; Saundra S., Buys; Ramunas, Janavicius; Cecilia M., Dorfling; Elizabeth J., Van Rensburg; Linda, Steele; Susan L., Neuhausen; Yuan Chun, Ding; Thomas V. O., Hansen; Lars, Jønson; Bent, Ejlertsen; Anne Marie, Gerdes; Mar, Infante; Belen, Herraez; Leticia Thais, Moreno; Jeffrey N., Weitzel; Josef, Herzog; Kisa, Weeman; Siranoush, Manoukian; Bernard, Peissel; Daniela, Zaffaroni; Giulietta, Scuvera; Bernardo, Bonanni; Frederique, Mariette; Sara, Volorio; Alessandra, Viel; Liliana, Varesco; Laura, Papi; Ottini, Laura; Maria Grazia, Tibiletti; Paolo, Radice; Drakoulis, Yannoukakos; Judy, Garber; Steve, Ellis; Debra, Frost; Radka, Platte; Elena, Fineberg; Gareth, Evans; Fiona, Lalloo; Louise, Izatt; Ros, Eeles; Julian, Adlard; Rosemarie, Davidson; Trevor, Cole; Diana, Eccles; Jackie, Cook; Shirley, Hodgson; Carole, Brewer; Marc, Tischkowitz; Fiona, Douglas; Mary, Porteous; Lucy, Side; Lisa, Walker; Patrick, Morrison; Alan, Donaldson; John, Kennedy; Claire, Foo; Andrew K., Godwin; Rita Katharina, Schmutzler; Barbara, Wappenschmidt; Kerstin, Rhiem; Christoph, Engel; Alfons, Meindl; Nina, Ditsch; Norbert, Arnold; Hans Jorg, Plendl; Dieter, Niederacher; Christian, Sutter; Shan Wang, Gohrke; Doris, Steinemann; Sabine Preisler, Adams; Karin, Kast; Raymonda Varon, Mateeva; Andrea, Gehrig; Dominique Stoppa, Lyonnet; Olga M., Sinilnikova; Sylvie, Mazoyer; Francesca, Damiola; Bruce, Poppe; Kathleen, Claes; Marion, Piedmonte; Kathy, Tucker; Floor, Backes; Gustavo, Rodriguez; Wendy, Brewster; Katie, Wakeley; Thomas, Rutherford; Trinidad, Caldes; Heli, Nevanlinna; Kristiina, Aittomaki; Matti A., Rookus; Theo A. M., Van Os; Lizet Van Der, Kolk; J. L., De Lange; Hanne E. J., Meijers Heijboer; A. H., Van Der Hout; Christi J., Van Asperen; Encarna B., Gomez Garcia; Nicoline, Hoogerbrugge; J., Margriet Collee; Carolien H. M., Van Deurzen; Rob B., Van Der Luijt; Peter, Devilee; Hebon, ; Edith, Olah; Conxi, Lazaro; Alex, Teule; Mireia, Menendez; Anna, Jakubowska; Cezary, Cybulski; Jacek, Gronwald; Jan, Lubinski; Katarzyna, Durda; Katarzyna Jaworska, Bieniek; Oskar Th, Johannsson; Christine, Maugard; Marco, Montagna; Silvia, Tognazzo; Manuel R., Teixeira; Sue, Healey; Kconfab, Investigators; Curtis, Olswold; Lucia, Guidugli; Noralane, Lindor; Susan, Slager; Csilla I., Szabo; Joseph, Vijai; Mark, Robson; Noah, Kauff; Liying, Zhang; Rohini Rau, Murthy; Anneliese Fink, Retter; Christian F., Singer; Christine, Rappaport; Daphne Geschwantler, Kaulich; Georg, Pfeiler; Muy Kheng, Tea; Andreas, Berger; Catherine M., Phelan; Mark H., Greene; Phuong L., Mai; Flavio, Lejbkowicz; Irene, Andrulis; Anna Marie, Mulligan; Gord, Glendon; Amanda Ewart, Toland; Anders, Bojesen; Inge Sokilde, Pedersen; Lone, Sunde; Mads, Thomassen; Torben A., Kruse; Uffe Birk, Jensen; Eitan, Friedman; Yael, Laitman; Shani Paluch, Shimon; Jacques, Simard; Douglas F., Easton; Kenneth, Offit; Fergus J., Couch; Georgia Chenevix, Trench; Antonis C., Antoniou; Javier, Benitez. - In: PLOS GENETICS. - ISSN 1553-7390. - 10:4(2014), pp. e1004256-1-e1004256-12. [10.1371/journal.pgen.1004256]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/557936
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