| Literature DB >> 24698998 |
Ana Osorio1, Roger L Milne2, Karoline Kuchenbaecker3, Tereza Vaclová4, Guillermo Pita5, Rosario Alonso5, Paolo Peterlongo6, Ignacio Blanco7, Miguel de la Hoya8, Mercedes Duran9, Orland Díez10, Teresa Ramón Y Cajal11, Irene Konstantopoulou12, Cristina Martínez-Bouzas13, Raquel Andrés Conejero14, Penny Soucy15, Lesley McGuffog3, Daniel Barrowdale3, Andrew Lee3, Brita Arver16, Johanna Rantala17, Niklas Loman18, Hans Ehrencrona19, Olufunmilayo I Olopade20, Mary S Beattie21, Susan M Domchek22, Katherine Nathanson22, Timothy R Rebbeck23, Banu K Arun24, Beth Y Karlan25, Christine Walsh25, Jenny Lester25, Esther M John26, Alice S Whittemore27, Mary B Daly28, Melissa Southey29, John Hopper30, Mary B Terry31, Saundra S Buys32, Ramunas Janavicius33, Cecilia M Dorfling34, Elizabeth J van Rensburg34, Linda Steele35, Susan L Neuhausen35, Yuan Chun Ding35, Thomas V O Hansen36, Lars Jønson36, Bent Ejlertsen37, Anne-Marie Gerdes38, Mar Infante9, Belén Herráez5, Leticia Thais Moreno5, Jeffrey N Weitzel39, Josef Herzog39, Kisa Weeman39, Siranoush Manoukian40, Bernard Peissel40, Daniela Zaffaroni40, Giulietta Scuvera40, Bernardo Bonanni41, Frederique Mariette42, Sara Volorio42, Alessandra Viel43, Liliana Varesco44, Laura Papi45, Laura Ottini46, Maria Grazia Tibiletti47, Paolo Radice48, Drakoulis Yannoukakos12, Judy Garber49, Steve Ellis3, Debra Frost3, Radka Platte3, Elena Fineberg3, Gareth Evans50, Fiona Lalloo50, Louise Izatt51, Ros Eeles52, Julian Adlard53, Rosemarie Davidson54, Trevor Cole55, Diana Eccles56, Jackie Cook57, Shirley Hodgson58, Carole Brewer59, Marc Tischkowitz60, Fiona Douglas61, Mary Porteous62, Lucy Side63, Lisa Walker64, Patrick Morrison65, Alan Donaldson66, John Kennedy67, Claire Foo68, Andrew K Godwin69, Rita Katharina Schmutzler70, Barbara Wappenschmidt70, Kerstin Rhiem70, Christoph Engel71, Alfons Meindl72, Nina Ditsch72, Norbert Arnold73, Hans Jörg Plendl74, Dieter Niederacher75, Christian Sutter76, Shan Wang-Gohrke77, Doris Steinemann78, Sabine Preisler-Adams79, Karin Kast80, Raymonda Varon-Mateeva81, Andrea Gehrig82, Dominique Stoppa-Lyonnet83, Olga M Sinilnikova84, Sylvie Mazoyer85, Francesca Damiola85, Bruce Poppe86, Kathleen Claes86, Marion Piedmonte87, Kathy Tucker88, Floor Backes89, Gustavo Rodríguez90, Wendy Brewster91, Katie Wakeley92, Thomas Rutherford93, Trinidad Caldés8, Heli Nevanlinna94, Kristiina Aittomäki94, Matti A Rookus95, Theo A M van Os96, Lizet van der Kolk97, J L de Lange95, Hanne E J Meijers-Heijboer98, A H van der Hout99, Christi J van Asperen100, Encarna B Gómez Garcia101, Nicoline Hoogerbrugge102, J Margriet Collée103, Carolien H M van Deurzen104, Rob B van der Luijt105, Peter Devilee106, Edith Olah107, Conxi Lázaro108, Alex Teulé7, Mireia Menéndez108, Anna Jakubowska109, Cezary Cybulski109, Jacek Gronwald109, Jan Lubinski109, Katarzyna Durda109, Katarzyna Jaworska-Bieniek110, Oskar Th Johannsson111, Christine Maugard112, Marco Montagna113, Silvia Tognazzo113, Manuel R Teixeira114, Sue Healey115, Curtis Olswold116, Lucia Guidugli117, Noralane Lindor118, Susan Slager116, Csilla I Szabo119, Joseph Vijai120, Mark Robson121, Noah Kauff121, Liying Zhang122, Rohini Rau-Murthy121, Anneliese Fink-Retter123, Christian F Singer123, Christine Rappaport123, Daphne Geschwantler Kaulich123, Georg Pfeiler123, Muy-Kheng Tea123, Andreas Berger123, Catherine M Phelan124, Mark H Greene125, Phuong L Mai125, Flavio Lejbkowicz126, Irene Andrulis127, Anna Marie Mulligan128, Gord Glendon129, Amanda Ewart Toland130, Anders Bojesen131, Inge Sokilde Pedersen132, Lone Sunde133, Mads Thomassen134, Torben A Kruse134, Uffe Birk Jensen133, Eitan Friedman135, Yael Laitman135, Shani Paluch Shimon135, Jacques Simard136, Douglas F Easton3, Kenneth Offit120, Fergus J Couch137, Georgia Chenevix-Trench115, Antonis C Antoniou3, Javier Benitez138.
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.Entities:
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Year: 2014 PMID： 24698998 PMCID： PMC3974638 DOI： 10.1371/journal.pgen.1004256
Source DB: PubMed Journal: PLoS Genet ISSN： 1553-7390 Impact factor: 5.917