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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS Genetics, Volume 10, No. 4, Article e1004256, Year 2014
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Description
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.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3974638/bin/pgen.1004256.s001.ppt
https://efashare.b-cdn.net/share/pmc/articles/PMC3974638/bin/pgen.1004256.s002.xls
https://efashare.b-cdn.net/share/pmc/articles/PMC3974638/bin/pgen.1004256.s003.xls
Authors & Co-Authors
Osorio, Ana
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Milne, Roger L.
Australia, East Melbourne
Cancer Council Victoria
Kuchenbaecker, Karoline B.
United Kingdom, Cambridge
Department of Public Health and Primary Care
Vaclová, Tereza
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Pita, Guillermo
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Alonso, Rosario
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Peterlongo, Paolo
Italy, Milan
Fondazione Ifom Istituto Firc Di Oncologia Molecolare
Blanco, Ignacio
Spain, Hospitalet de Llobregat
Institute Catala Oncologia
de la Hoya, Miguel
Spain, Madrid
Hospital Clínico San Carlos
Durán, Mercedes
Spain, Valladolid
Universidad de Valladolid
Díez, Orland
Spain, Barcelona
Vall D‘hebron Institut de Oncologia
Ramón y Cajal, Teresa Y.
Spain, Barcelona
Hospital de la Santa Creu I Sant Pau
Konstantopoulou, Irene
Greece, Athens
National Centre for Scientific Research Demokritos
Martinez-Bouzas, Cristina
Spain, Baracaldo
Osakidetza, Cruces University Hospital
Andrés Conejero, Raquel
Spain, Zaragoza
Hospital Clinico Universitario Lozano Blesa
Soucy, Penny
Canada, Quebec
Chu de Québec-université Laval
McGuffog, Lesley
United Kingdom, Cambridge
Department of Public Health and Primary Care
Barrowdale, Daniel
United Kingdom, Cambridge
Department of Public Health and Primary Care
Lee, Andrew J.
United Kingdom, Cambridge
Department of Public Health and Primary Care
Arver, Brita Wasteson
Sweden, Stockholm
Karolinska Universitetssjukhuset
Rantala, Johanna
Sweden, Stockholm
Karolinska Universitetssjukhuset
Loman, Niklas
Sweden, Lund
Skånes Universitetssjukhus
Ehrencrona, Hans
Sweden, Lund
Skånes Universitetssjukhus
Olopade, Olufunmilayo Ibironke
United States, Chicago
The University of Chicago Medicine
Beattie, Mary Spanos
United States, San Francisco
University of California, San Francisco
Domchek, Susan M.
United States, Philadelphia
Penn Medicine
Nathanson, Katherine L.
United States, Philadelphia
Penn Medicine
Rebbeck, Timothy R.
United States, Philadelphia
Penn Medicine
Arun, Banu K.
United States, Houston
The University of Texas Md Anderson Cancer Center
Karlan, Beth Y.
United States, Los Angeles
Cedars-sinai Medical Center
Walsh, Christine S.
United States, Los Angeles
Cedars-sinai Medical Center
Lester, Jenny
United States, Los Angeles
Cedars-sinai Medical Center
John, Esther M.
United States, Fremont
Cancer Prevention Institute of California
Whittemore, Alice S.
United States, Stanford
Stanford University School of Medicine
Daly, Mary Beryl
United States, Philadelphia
Fox Chase Cancer Center
Southey, Melissa Caroline
Australia, Melbourne
Faculty of Medicine, Dentistry and Health Sciences
Hopper, John Llewelyn
Australia, Melbourne
University of Melbourne
Terry, Mary Beth Eth
United States, New York
Columbia University
Buys, Saundra S.
United States, Salt Lake City
Huntsman Cancer Institute
Janavičius, Ramūnas
Lithuania, Vilnius
Vilniaus Universitetas
Dorfling, Cecilia M.
South Africa, Pretoria
University of Pretoria
van Rensburg, Elizabeth J.
South Africa, Pretoria
University of Pretoria
Steele, Linda
United States, Duarte
City of Hope National Med Center
Floris, Giuseppe L.
United States, Duarte
City of Hope National Med Center
Ding, Yuanchun
United States, Duarte
City of Hope National Med Center
Hansen, Thomas Van Overeem
Denmark, Copenhagen
Københavns Universitet
Jønson, Lars
Denmark, Copenhagen
Københavns Universitet
Ejlertsen, Bent
Denmark, Copenhagen
Københavns Universitet
Gerdes, Anne Marie Axø
Denmark, Copenhagen
Københavns Universitet
Infante, Mar
Spain, Valladolid
Universidad de Valladolid
Herráez, Belén
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Moreno, Leticia Tais
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Weitzel, Jeffrey Nelson
United States, Duarte
City of Hope National Med Center
Herzog, Josef S.
United States, Duarte
City of Hope National Med Center
Weeman, Kisa
United States, Duarte
City of Hope National Med Center
Manoukian, Siranoush
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Peissel, Bernard
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Zaffaroni, Daniela
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Scuvera, Giulietta
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Bonanni, Bernardo
Italy, Milan
Istituto Europeo Di Oncologia
Mariette, Frederique
Italy, Milan
Fondazione Ifom Istituto Firc Di Oncologia Molecolare
Volorio, Sara
Italy, Milan
Fondazione Ifom Istituto Firc Di Oncologia Molecolare
Viel, Alessandra
Italy, Aviano
Irccs Centro Di Riferimento Oncologico Aviano
Varesco, Liliana
Italy, Genoa
Irccs San Martino Polyclinic Hospital
Papi, Laura
Italy, Florence
Università Degli Studi Di Firenze, Facoltà Di Medicina e Chirurgia
Ottini, Laura
Italy, Rome
Sapienza Università Di Roma
Tibiletti, Maria Grazia
Italy, Varese
Università Degli Studi Dell'insubria
Radice, Paolo
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Yannoukakos, Drakoulis
Greece, Athens
National Centre for Scientific Research Demokritos
Garber, Judy Ellen
United States, Boston
Dana-farber Cancer Institute
Ellis, Steve D.
United Kingdom, Cambridge
Department of Public Health and Primary Care
Frost, Debra
United Kingdom, Cambridge
Department of Public Health and Primary Care
Platte, Radka
United Kingdom, Cambridge
Department of Public Health and Primary Care
Fineberg, Elena
United Kingdom, Cambridge
Department of Public Health and Primary Care
Evans, D. Gareth R.
United Kingdom, Manchester
Health Innovation Manchester
Lalloo, Fiona I.
United Kingdom, Manchester
Health Innovation Manchester
Izatt, Louise
United Kingdom, London
Guy's Hospital
Eeles, Ros A.
United Kingdom, London
The Royal Marsden Nhs Foundation Trust
Adlard, Julian
United Kingdom, Leeds
Yorkshire Regional Genetics Service
Davidson, Rosemarie H.
United Kingdom, Glasgow
Royal Hospital for Sick Children
Cole, Trevor R.P.
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Eccles, Diana M.
United Kingdom, Southampton
Princess Anne Hospital
Cook, Jacqueline A.
United Kingdom, Sheffield
Sheffield Children's Hospital
Hodgson, Shirley Victoria
United Kingdom, London
St George's Hospital
Brewer, Carole M.
United Kingdom, Exeter
Royal Devon and Exeter Hospital
Tischkowitz, Marc D.
United Kingdom, Cambridge
Addenbrooke's Hospital
Douglas, Fiona S.
United Kingdom, Newcastle
The Newcastle Upon Tyne Hospitals Nhs Foundation Trust
Porteous, Mary E.M.
United Kingdom, Edinburgh
Western General Hospital
Side, Lucy E.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Walker, Lisa J.
United Kingdom, Oxford
Churchill Hospital
Morrison, Patrick J.
United Kingdom, Belfast
Belfast City Hospital
Donaldson, Alan
Unknown Affiliation
Kennedy, John
Ireland, Dublin
St James's Hospital
Foo, Claire
United Kingdom, Liverpool
Liverpool Women's Nhs Foundation Trust
Godwin, Andrew K.
United States, Kansas City
University of Kansas Medical Center
Schmutzler, Rita Katharina
Germany, Aachen
Centrum Für Integrierte Onkologie
Wappenschmidt, Barbara
Germany, Aachen
Centrum Für Integrierte Onkologie
Rhiem, Kerstin M.
Germany, Aachen
Centrum Für Integrierte Onkologie
Engel, Christoph
Germany, Leipzig
Universität Leipzig
Meindl, Alfons
Germany, Munich
Klinikum Rechts Der Isar
Statistics
Citations: 116
Authors: 100
Affiliations: 62
Identifiers
Doi:
10.1371/journal.pgen.1004256
e-ISSN:
15537404
Research Areas
Cancer
Genetics And Genomics