A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Q1
- Autores:
-
Coignard, Juliette
Lush, Michael
Beesley, Jonathan
O’Mara, Tracy A.
Dennis, Joe
Tyrer, Jonathan P.
Barnes, Daniel R.
McGuffog, Lesley
Leslie, Goska
Bolla, Manjeet K.
Adank, Muriel A.
Agata, Simona
Ahearn, Thomas
Aittomäki, Kristiina
Andrulis, Irene L.
Anton-Culver, Hoda
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J.
Arun, Banu K.
Augustinsson, Annelie
Azzollini, Jacopo
Barrowdale, Daniel
Baynes, Caroline
Becher, Heiko
Bermisheva, Marina
Bernstein, Leslie
Białkowska, Katarzyna
Blomqvist, Carl
Bojesen, Stig E.
Bonanni, Bernardo
Borg, Ake
Brauch, Hiltrud
Brenner, Hermann
Burwinkel, Barbara
Buys, Saundra S.
Caldés, Trinidad
Caligo, Maria A.
Campa, Daniele
Carter, Brian D.
Castelao, Jose E.
Chang-Claude, Jenny
Chanock, Stephen J.
Chung, Wendy K.
Claes, Kathleen B. M.
Clarke, Christine L.
GEMO Study Collaborators
EMBRACE Collaborators
Margriet Collée, J.
Conroy, Don M.
Czene, Kamila
Daly, Mary B.
Devilee, Peter
Diez, Orland
Chun Ding, Yuan
Domchek, Susan M.
Dörk, Thilo
dos-Santos-Silva, Isabel
Dunning, Alison M.
Dwek, Miriam
Eccles, Diana M.
Eliassen, Heather A.
Engel, Christoph
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter A.
Flyger, Henrik
Fostira, Florentia
Friedman, Eitan
Fritschi, Lin
Frost, Debra
Gago-Dominguez, Manuela
Gapstur, Susan M.
Garber, Judy
Garcia-Barberan, Vanesa
García-Closas, Montserrat
García-Sáenz, José A.
Gaudet, Mia M.
Gayther, Simon A.
Gehrig, Andrea
Georgoulias, Vassilios
Giles, Graham G.
Godwin, Andrew K.
Goldberg, Mark S.
Goldgar, David E.
González-Neira, Anna
Greene, Mark H.
Guénel, Pascal
Haeberle, Lothar
Hahnen, Eric
Haiman, Christopher A.
Håkansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia A.
Hart, Steven N.
He, Wei
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Hopper, John L.
Horcasitas, Darling J.
Hulick, Peter J.
Hunter, David J.
Imyanitov, Evgeny N.
KConFab Investigators
HEBON Investigators
ABCTB Investigators
Jager, Agnes
Jakubowska, Anna
James, Paul A.
Birk Jensen, Uffe
John, Esther M.
Jones, Michael E.
Kaaks, Rudolf
Middha Kapoor, Pooja
Karlan, Beth Y.
Keeman, Renske
Khusnutdinova, Elza
Kiiski, Johanna I.
Ko, Yon-Dschun
Kosma, Veli-Matti
Kraft, Peter
Kurian, Allison W.
Laitman, Yael
Lambrechts, Diether
Marchand, Loic Le
Lester, Jenny
Lesueur, Fabienne
Lindstrom, Tricia
Lopez-Fernández, Adria
Loud, Jennifer T.
Luccarini, Craig
Mannermaa, Arto
Manoukian, Siranoush
Margolin, Sara
Martens, John W. M.
Mebirouk, Noura
Meindl, Alfons
Miller, Austin
Milne, Roger L.
Montagna, Marco
Nathanson, Katherine L.
Neuhausen, Susan L.
Nevanlinna, Heli
Nielsen, Finn C.
O’Brien, Katie M.
Olopade, Olufunmilayo I.
Olson, Janet E.
Olsson, Håkan
Osorio, Ana
Ottini, Laura
Park-Simon, Tjoung-Won
Parsons, Michael T.
Pedersen, Inge Sokilde
Peshkin, Beth
Peterlongo, Paolo
Peto, Julian
Pharoah, Paul D. P.
Phillips, Kelly-Anne
Polley, Eric C.
Poppe, Bruce
Presneau, Nadege
Pujana, Miquel Angel
Punie, Kevin
Radice, Paolo
Rantala, Johanna
Rashid, Muhammad U.
Rennert, Gad
Rennert, Hedy S.
Robson, Mark
Romero, Atocha
Rossing, Maria
Saloustros, Emmanouil
Sandler, Dale P.
Santella, Regina
Scheuner, Maren T.
Schmidt, Marjanka K.
Schmidt, Gunnar
Scott, Christopher
Sharma, Priyanka
Soucy, Penny
Southey, Melissa C.
Spinelli, John J.
Steinsnyder, Zoe
Stone, Jennifer
Stoppa-Lyonnet, Dominique
Swerdlow, Anthony J.
Tamimi, Rulla M.
Tapper, William J.
Taylor, Jack A.
Terry, Mary Beth
Teulé, Alex
Thull, Darcy L.
Tischkowitz, Marc
Toland, Amanda E.
Torres-López, Diana María
Trainer, Alison H.
Truong, Thérèse
Tung, Nadine
Vachon, Celine M.
Vega, Ana
Vijai, Joseph
Wang, Qin
Wappenschmidt, Barbara
Weinberg, Clarice R.
Weitzel, Jeffrey N.
Wendt, Camilla
Wolk, Alicja
Yadav, Siddhartha
Yang, Xiaohong R.
Yannoukakos, Drakoulis
Zheng, Wei
Ziogas, Argyrios
Zorn, Kristin K.
Park, Sue K.
Thomassen, Mads
Offit, Kenneth
Schmutzler, Rita K.
Couch, Fergus J.
Simard, Jacques
Chenevix-Trench, Georgia
Easton, Douglas F.
Andrieu, Nadine
Antoniou, Antonis C.
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/63841
- Acceso en línea:
- https://www.nature.com/articles/s41467-020-20496-3
http://hdl.handle.net/10554/63841
https://doi.org/10.1038/s41467-020-20496-3
- Palabra clave:
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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oai:repository.javeriana.edu.co:10554/63841 |
network_acronym_str |
JAVERIANA2 |
network_name_str |
Repositorio Universidad Javeriana |
repository_id_str |
|
dc.title.spa.fl_str_mv |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
spellingShingle |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title_short |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title_full |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title_fullStr |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title_full_unstemmed |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
title_sort |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers |
dc.creator.fl_str_mv |
Coignard, Juliette Lush, Michael Beesley, Jonathan O’Mara, Tracy A. Dennis, Joe Tyrer, Jonathan P. Barnes, Daniel R. McGuffog, Lesley Leslie, Goska Bolla, Manjeet K. Adank, Muriel A. Agata, Simona Ahearn, Thomas Aittomäki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Arndt, Volker Arnold, Norbert Aronson, Kristan J. Arun, Banu K. Augustinsson, Annelie Azzollini, Jacopo Barrowdale, Daniel Baynes, Caroline Becher, Heiko Bermisheva, Marina Bernstein, Leslie Białkowska, Katarzyna Blomqvist, Carl Bojesen, Stig E. Bonanni, Bernardo Borg, Ake Brauch, Hiltrud Brenner, Hermann Burwinkel, Barbara Buys, Saundra S. Caldés, Trinidad Caligo, Maria A. Campa, Daniele Carter, Brian D. Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Chung, Wendy K. Claes, Kathleen B. M. Clarke, Christine L. GEMO Study Collaborators EMBRACE Collaborators Margriet Collée, J. Conroy, Don M. Czene, Kamila Daly, Mary B. Devilee, Peter Diez, Orland Chun Ding, Yuan Domchek, Susan M. Dörk, Thilo dos-Santos-Silva, Isabel Dunning, Alison M. Dwek, Miriam Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Eriksson, Mikael Evans, D. Gareth Fasching, Peter A. Flyger, Henrik Fostira, Florentia Friedman, Eitan Fritschi, Lin Frost, Debra Gago-Dominguez, Manuela Gapstur, Susan M. Garber, Judy Garcia-Barberan, Vanesa García-Closas, Montserrat García-Sáenz, José A. Gaudet, Mia M. Gayther, Simon A. Gehrig, Andrea Georgoulias, Vassilios Giles, Graham G. Godwin, Andrew K. Goldberg, Mark S. Goldgar, David E. González-Neira, Anna Greene, Mark H. Guénel, Pascal Haeberle, Lothar Hahnen, Eric Haiman, Christopher A. Håkansson, Niclas Hall, Per Hamann, Ute Harrington, Patricia A. Hart, Steven N. He, Wei Hogervorst, Frans B. L. Hollestelle, Antoinette Hopper, John L. Horcasitas, Darling J. Hulick, Peter J. Hunter, David J. Imyanitov, Evgeny N. KConFab Investigators HEBON Investigators ABCTB Investigators Jager, Agnes Jakubowska, Anna James, Paul A. Birk Jensen, Uffe John, Esther M. Jones, Michael E. Kaaks, Rudolf Middha Kapoor, Pooja Karlan, Beth Y. Keeman, Renske Khusnutdinova, Elza Kiiski, Johanna I. Ko, Yon-Dschun Kosma, Veli-Matti Kraft, Peter Kurian, Allison W. Laitman, Yael Lambrechts, Diether Marchand, Loic Le Lester, Jenny Lesueur, Fabienne Lindstrom, Tricia Lopez-Fernández, Adria Loud, Jennifer T. Luccarini, Craig Mannermaa, Arto Manoukian, Siranoush Margolin, Sara Martens, John W. M. Mebirouk, Noura Meindl, Alfons Miller, Austin Milne, Roger L. Montagna, Marco Nathanson, Katherine L. Neuhausen, Susan L. Nevanlinna, Heli Nielsen, Finn C. O’Brien, Katie M. Olopade, Olufunmilayo I. Olson, Janet E. Olsson, Håkan Osorio, Ana Ottini, Laura Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge Sokilde Peshkin, Beth Peterlongo, Paolo Peto, Julian Pharoah, Paul D. P. Phillips, Kelly-Anne Polley, Eric C. Poppe, Bruce Presneau, Nadege Pujana, Miquel Angel Punie, Kevin Radice, Paolo Rantala, Johanna Rashid, Muhammad U. Rennert, Gad Rennert, Hedy S. Robson, Mark Romero, Atocha Rossing, Maria Saloustros, Emmanouil Sandler, Dale P. Santella, Regina Scheuner, Maren T. Schmidt, Marjanka K. Schmidt, Gunnar Scott, Christopher Sharma, Priyanka Soucy, Penny Southey, Melissa C. Spinelli, John J. Steinsnyder, Zoe Stone, Jennifer Stoppa-Lyonnet, Dominique Swerdlow, Anthony J. Tamimi, Rulla M. Tapper, William J. Taylor, Jack A. Terry, Mary Beth Teulé, Alex Thull, Darcy L. Tischkowitz, Marc Toland, Amanda E. Torres-López, Diana María Trainer, Alison H. Truong, Thérèse Tung, Nadine Vachon, Celine M. Vega, Ana Vijai, Joseph Wang, Qin Wappenschmidt, Barbara Weinberg, Clarice R. Weitzel, Jeffrey N. Wendt, Camilla Wolk, Alicja Yadav, Siddhartha Yang, Xiaohong R. Yannoukakos, Drakoulis Zheng, Wei Ziogas, Argyrios Zorn, Kristin K. Park, Sue K. Thomassen, Mads Offit, Kenneth Schmutzler, Rita K. Couch, Fergus J. Simard, Jacques Chenevix-Trench, Georgia Easton, Douglas F. Andrieu, Nadine Antoniou, Antonis C. |
dc.contributor.author.none.fl_str_mv |
Coignard, Juliette Lush, Michael Beesley, Jonathan O’Mara, Tracy A. Dennis, Joe Tyrer, Jonathan P. Barnes, Daniel R. McGuffog, Lesley Leslie, Goska Bolla, Manjeet K. Adank, Muriel A. Agata, Simona Ahearn, Thomas Aittomäki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Arndt, Volker Arnold, Norbert Aronson, Kristan J. Arun, Banu K. Augustinsson, Annelie Azzollini, Jacopo Barrowdale, Daniel Baynes, Caroline Becher, Heiko Bermisheva, Marina Bernstein, Leslie Białkowska, Katarzyna Blomqvist, Carl Bojesen, Stig E. Bonanni, Bernardo Borg, Ake Brauch, Hiltrud Brenner, Hermann Burwinkel, Barbara Buys, Saundra S. Caldés, Trinidad Caligo, Maria A. Campa, Daniele Carter, Brian D. Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Chung, Wendy K. Claes, Kathleen B. M. Clarke, Christine L. GEMO Study Collaborators EMBRACE Collaborators Margriet Collée, J. Conroy, Don M. Czene, Kamila Daly, Mary B. Devilee, Peter Diez, Orland Chun Ding, Yuan Domchek, Susan M. Dörk, Thilo dos-Santos-Silva, Isabel Dunning, Alison M. Dwek, Miriam Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Eriksson, Mikael Evans, D. Gareth Fasching, Peter A. Flyger, Henrik Fostira, Florentia Friedman, Eitan Fritschi, Lin Frost, Debra Gago-Dominguez, Manuela Gapstur, Susan M. Garber, Judy Garcia-Barberan, Vanesa García-Closas, Montserrat García-Sáenz, José A. Gaudet, Mia M. Gayther, Simon A. Gehrig, Andrea Georgoulias, Vassilios Giles, Graham G. Godwin, Andrew K. Goldberg, Mark S. Goldgar, David E. González-Neira, Anna Greene, Mark H. Guénel, Pascal Haeberle, Lothar Hahnen, Eric Haiman, Christopher A. Håkansson, Niclas Hall, Per Hamann, Ute Harrington, Patricia A. Hart, Steven N. He, Wei Hogervorst, Frans B. L. Hollestelle, Antoinette Hopper, John L. Horcasitas, Darling J. Hulick, Peter J. Hunter, David J. Imyanitov, Evgeny N. KConFab Investigators HEBON Investigators ABCTB Investigators Jager, Agnes Jakubowska, Anna James, Paul A. Birk Jensen, Uffe John, Esther M. Jones, Michael E. Kaaks, Rudolf Middha Kapoor, Pooja Karlan, Beth Y. Keeman, Renske Khusnutdinova, Elza Kiiski, Johanna I. Ko, Yon-Dschun Kosma, Veli-Matti Kraft, Peter Kurian, Allison W. Laitman, Yael Lambrechts, Diether Marchand, Loic Le Lester, Jenny Lesueur, Fabienne Lindstrom, Tricia Lopez-Fernández, Adria Loud, Jennifer T. Luccarini, Craig Mannermaa, Arto Manoukian, Siranoush Margolin, Sara Martens, John W. M. Mebirouk, Noura Meindl, Alfons Miller, Austin Milne, Roger L. Montagna, Marco Nathanson, Katherine L. Neuhausen, Susan L. Nevanlinna, Heli Nielsen, Finn C. O’Brien, Katie M. Olopade, Olufunmilayo I. Olson, Janet E. Olsson, Håkan Osorio, Ana Ottini, Laura Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge Sokilde Peshkin, Beth Peterlongo, Paolo Peto, Julian Pharoah, Paul D. P. Phillips, Kelly-Anne Polley, Eric C. Poppe, Bruce Presneau, Nadege Pujana, Miquel Angel Punie, Kevin Radice, Paolo Rantala, Johanna Rashid, Muhammad U. Rennert, Gad Rennert, Hedy S. Robson, Mark Romero, Atocha Rossing, Maria Saloustros, Emmanouil Sandler, Dale P. Santella, Regina Scheuner, Maren T. Schmidt, Marjanka K. Schmidt, Gunnar Scott, Christopher Sharma, Priyanka Soucy, Penny Southey, Melissa C. Spinelli, John J. Steinsnyder, Zoe Stone, Jennifer Stoppa-Lyonnet, Dominique Swerdlow, Anthony J. Tamimi, Rulla M. Tapper, William J. Taylor, Jack A. Terry, Mary Beth Teulé, Alex Thull, Darcy L. Tischkowitz, Marc Toland, Amanda E. Torres-López, Diana María Trainer, Alison H. Truong, Thérèse Tung, Nadine Vachon, Celine M. Vega, Ana Vijai, Joseph Wang, Qin Wappenschmidt, Barbara Weinberg, Clarice R. Weitzel, Jeffrey N. Wendt, Camilla Wolk, Alicja Yadav, Siddhartha Yang, Xiaohong R. Yannoukakos, Drakoulis Zheng, Wei Ziogas, Argyrios Zorn, Kristin K. Park, Sue K. Thomassen, Mads Offit, Kenneth Schmutzler, Rita K. Couch, Fergus J. Simard, Jacques Chenevix-Trench, Georgia Easton, Douglas F. Andrieu, Nadine Antoniou, Antonis C. |
dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
dc.contributor.javerianateacher.none.fl_str_mv |
Torres-López, Diana María |
description |
Q1 |
publishDate |
2021 |
dc.date.created.none.fl_str_mv |
2021-02-17 |
dc.date.accessioned.none.fl_str_mv |
2023-03-17T14:20:02Z |
dc.date.available.none.fl_str_mv |
2023-03-17T14:20:02Z |
dc.type.local.spa.fl_str_mv |
Artículo de revista |
dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
format |
http://purl.org/coar/resource_type/c_6501 |
dc.identifier.spa.fl_str_mv |
https://www.nature.com/articles/s41467-020-20496-3 |
dc.identifier.issn.spa.fl_str_mv |
2041-1723 |
dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/63841 |
dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1038/s41467-020-20496-3 |
dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
dc.identifier.repourl.spa.fl_str_mv |
repourl:https://repository.javeriana.edu.co |
url |
https://www.nature.com/articles/s41467-020-20496-3 http://hdl.handle.net/10554/63841 https://doi.org/10.1038/s41467-020-20496-3 |
identifier_str_mv |
2041-1723 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationstartpage.spa.fl_str_mv |
1 |
dc.relation.citationendpage.spa.fl_str_mv |
22 |
dc.relation.ispartofjournal.spa.fl_str_mv |
Nature Communications |
dc.relation.citationvolume.spa.fl_str_mv |
12 |
dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
rights_invalid_str_mv |
Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Coignard, JulietteLush, MichaelBeesley, JonathanO’Mara, Tracy A.Dennis, JoeTyrer, Jonathan P.Barnes, Daniel R.McGuffog, LesleyLeslie, GoskaBolla, Manjeet K.Adank, Muriel A.Agata, SimonaAhearn, ThomasAittomäki, KristiinaAndrulis, Irene L.Anton-Culver, HodaArndt, VolkerArnold, NorbertAronson, Kristan J.Arun, Banu K.Augustinsson, AnnelieAzzollini, JacopoBarrowdale, DanielBaynes, CarolineBecher, HeikoBermisheva, MarinaBernstein, LeslieBiałkowska, KatarzynaBlomqvist, CarlBojesen, Stig E.Bonanni, BernardoBorg, AkeBrauch, HiltrudBrenner, HermannBurwinkel, BarbaraBuys, Saundra S.Caldés, TrinidadCaligo, Maria A.Campa, DanieleCarter, Brian D.Castelao, Jose E.Chang-Claude, JennyChanock, Stephen J.Chung, Wendy K.Claes, Kathleen B. M.Clarke, Christine L.GEMO Study CollaboratorsEMBRACE CollaboratorsMargriet Collée, J.Conroy, Don M.Czene, KamilaDaly, Mary B.Devilee, PeterDiez, OrlandChun Ding, YuanDomchek, Susan M.Dörk, Thilodos-Santos-Silva, IsabelDunning, Alison M.Dwek, MiriamEccles, Diana M.Eliassen, Heather A.Engel, ChristophEriksson, MikaelEvans, D. GarethFasching, Peter A.Flyger, HenrikFostira, FlorentiaFriedman, EitanFritschi, LinFrost, DebraGago-Dominguez, ManuelaGapstur, Susan M.Garber, JudyGarcia-Barberan, VanesaGarcía-Closas, MontserratGarcía-Sáenz, José A.Gaudet, Mia M.Gayther, Simon A.Gehrig, AndreaGeorgoulias, VassiliosGiles, Graham G.Godwin, Andrew K.Goldberg, Mark S.Goldgar, David E.González-Neira, AnnaGreene, Mark H.Guénel, PascalHaeberle, LotharHahnen, EricHaiman, Christopher A.Håkansson, NiclasHall, PerHamann, UteHarrington, Patricia A.Hart, Steven N.He, WeiHogervorst, Frans B. L.Hollestelle, AntoinetteHopper, John L.Horcasitas, Darling J.Hulick, Peter J.Hunter, David J.Imyanitov, Evgeny N.KConFab InvestigatorsHEBON InvestigatorsABCTB InvestigatorsJager, AgnesJakubowska, AnnaJames, Paul A.Birk Jensen, UffeJohn, Esther M.Jones, Michael E.Kaaks, RudolfMiddha Kapoor, PoojaKarlan, Beth Y.Keeman, RenskeKhusnutdinova, ElzaKiiski, Johanna I.Ko, Yon-DschunKosma, Veli-MattiKraft, PeterKurian, Allison W.Laitman, YaelLambrechts, DietherMarchand, Loic LeLester, JennyLesueur, FabienneLindstrom, TriciaLopez-Fernández, AdriaLoud, Jennifer T.Luccarini, CraigMannermaa, ArtoManoukian, SiranoushMargolin, SaraMartens, John W. M.Mebirouk, NouraMeindl, AlfonsMiller, AustinMilne, Roger L.Montagna, MarcoNathanson, Katherine L.Neuhausen, Susan L.Nevanlinna, HeliNielsen, Finn C.O’Brien, Katie M.Olopade, Olufunmilayo I.Olson, Janet E.Olsson, HåkanOsorio, AnaOttini, LauraPark-Simon, Tjoung-WonParsons, Michael T.Pedersen, Inge SokildePeshkin, BethPeterlongo, PaoloPeto, JulianPharoah, Paul D. P.Phillips, Kelly-AnnePolley, Eric C.Poppe, BrucePresneau, NadegePujana, Miquel AngelPunie, KevinRadice, PaoloRantala, JohannaRashid, Muhammad U.Rennert, GadRennert, Hedy S.Robson, MarkRomero, AtochaRossing, MariaSaloustros, EmmanouilSandler, Dale P.Santella, ReginaScheuner, Maren T.Schmidt, Marjanka K.Schmidt, GunnarScott, ChristopherSharma, PriyankaSoucy, PennySouthey, Melissa C.Spinelli, John J.Steinsnyder, ZoeStone, JenniferStoppa-Lyonnet, DominiqueSwerdlow, Anthony J.Tamimi, Rulla M.Tapper, William J.Taylor, Jack A.Terry, Mary BethTeulé, AlexThull, Darcy L.Tischkowitz, MarcToland, Amanda E.Torres-López, Diana MaríaTrainer, Alison H.Truong, ThérèseTung, NadineVachon, Celine M.Vega, AnaVijai, JosephWang, QinWappenschmidt, BarbaraWeinberg, Clarice R.Weitzel, Jeffrey N.Wendt, CamillaWolk, AlicjaYadav, SiddharthaYang, Xiaohong R.Yannoukakos, DrakoulisZheng, WeiZiogas, ArgyriosZorn, Kristin K.Park, Sue K.Thomassen, MadsOffit, KennethSchmutzler, Rita K.Couch, Fergus J.Simard, JacquesChenevix-Trench, GeorgiaEaston, Douglas F.Andrieu, NadineAntoniou, Antonis C.Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaTorres-López, Diana María2023-03-17T14:20:02Z2023-03-17T14:20:02Z2021-02-17https://www.nature.com/articles/s41467-020-20496-32041-1723http://hdl.handle.net/10554/63841https://doi.org/10.1038/s41467-020-20496-3instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengA case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriersArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q1Q1Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.https://orcid.org/0000-0002-9879-9775Revista Internacional - IndexadaA1No122Nature Communications12ORIGINALA case-only study to identify genetic modifiers of breast cancer risk for BRCA1 BRCA2 mutation carriers.pdfA case-only study to identify genetic modifiers of breast cancer risk for BRCA1 BRCA2 mutation carriers.pdfArtículoapplication/pdf3821260http://repository.javeriana.edu.co/bitstream/10554/63841/1/A%20case-only%20study%20to%20identify%20genetic%20modifiers%20of%20breast%20cancer%20risk%20for%20BRCA1%20BRCA2%20mutation%20carriers.pdf0c418f5a06cd471394b19b266e261c63MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63841/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILA case-only study to identify genetic modifiers of breast cancer risk for BRCA1 BRCA2 mutation carriers.pdf.jpgA case-only study to identify genetic modifiers of breast cancer risk for BRCA1 BRCA2 mutation carriers.pdf.jpgIM Thumbnailimage/jpeg7837http://repository.javeriana.edu.co/bitstream/10554/63841/3/A%20case-only%20study%20to%20identify%20genetic%20modifiers%20of%20breast%20cancer%20risk%20for%20BRCA1%20BRCA2%20mutation%20carriers.pdf.jpgba055ebed8277c278cdb67bb11b3edfeMD53open access10554/63841oai:repository.javeriana.edu.co:10554/638412023-03-18 03:03:01.176Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.coTElDRU5DSUEgWSBBVVRPUklaQUNJw5NOIERFIExPUyBBVVRPUkVTIFBBUkEgUFVCTElDQVIgWSBQRVJNSVRJUiBMQSBDT05TVUxUQSBZIFVTTy4KClBhcnRlIDEuIFTDqXJtaW5vcyBkZSBsYSBsaWNlbmNpYSBnZW5lcmFsIHBhcmEgcHVibGljYWNpw7NuIGRlIG9icmFzIGVuIGVsIHJlcG9zaXRvcmlvIGluc3RpdHVjaW9uYWwKQ29tbyB0aXR1bGFyIChlcykgZGVsIGRlcmVjaG8gZGUgYXV0b3IsIGNvbmZpZXJvIChlcmltb3MpIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgdW5hIGxpY2VuY2lhIG5vIGV4Y2x1c2l2YSwgbGltaXRhZGEgeSBncmF0dWl0YSBzb2JyZSBsYSBvYnJhIHF1ZSBzZSBpbnRlZ3JhcsOhIGVuIGVsIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwsIHF1ZSBzZSBhanVzdGEgYSBsYXMgc2lndWllbnRlcyBjYXJhY3RlcsOtc3RpY2FzOgphKSAgICAgIEVzdGFyw6EgdmlnZW50ZSBhIHBhcnRpciBkZSBsYSBmZWNoYSBkZSBpbmNsdXNpw7NuIGVuIGVsIHJlcG9zaXRvcmlvLCBwb3IgdW4gcGxhem8gZGUgNSBhw7FvcywgcXVlIHNlcsOhbiBwcm9ycm9nYWJsZXMgaW5kZWZpbmlkYW1lbnRlIHBvciBlbCB0aWVtcG8gcXVlIGR1cmUgZWwgZGVyZWNobyBwYXRyaW1vbmlhbCBkZWwgYXV0b3IuIEVsIGF1dG9yIHBvZHLDoSBkYXIgcG9yIHRlcm1pbmFkYSBsYSBsaWNlbmNpYSBzb2xpY2l0w6FuZG9sbyBhIGxhIFVuaXZlcnNpZGFkIHBvciBlc2NyaXRvLgpiKSAgICAgIEF1dG9yaXphIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgYSBwdWJsaWNhciBsYSBvYnJhIGVuIGRpZ2l0YWwsIGNvbm9jaWVuZG8gcXVlLCBkYWRvIHF1ZSBzZSBwdWJsaWNhIGVuIEludGVybmV0LCBwb3IgZXN0ZSBoZWNobyBjaXJjdWxhIGNvbiB1biBhbGNhbmNlIG11bmRpYWwuCmMpICAgICAgTG9zIGF1dG9yZXMgYWNlcHRhbiBxdWUgbGEgYXV0b3JpemFjacOzbiBzZSBoYWNlIGEgdMOtdHVsbyBncmF0dWl0bywgcG9yIGxvIHRhbnRvIHJlbnVuY2lhbiBhIHJlY2liaXIgYmVuZWZpY2lvIGFsZ3VubyBwb3IgbGEgcHVibGljYWNpw7NuLCBkaXN0cmlidWNpw7NuLCBjb211bmljYWNpw7NuIHDDumJsaWNhIHkgY3VhbHF1aWVyIG90cm8gdXNvIHF1ZSBzZSBoYWdhIGVuIGxvcyB0w6lybWlub3MgZGUgbGEgcHJlc2VudGUgbGljZW5jaWEgeSBkZSBsYSBsaWNlbmNpYSBkZSB1c28gY29uIHF1ZSBzZSBwdWJsaWNhLgpkKSAgICAgIExvcyBhdXRvcmVzIG1hbmlmaWVzdGFuIHF1ZSBzZSB0cmF0YSBkZSB1bmEgb2JyYSBvcmlnaW5hbCBzb2JyZSBsYSBxdWUgdGllbmVuIGxvcyBkZXJlY2hvcyBxdWUgYXV0b3JpemFuIHkgcXVlIHNvbiBlbGxvcyBxdWllbmVzIGFzdW1lbiB0b3RhbCByZXNwb25zYWJpbGlkYWQgcG9yIGVsIGNvbnRlbmlkbyBkZSBzdSBvYnJhIGFudGUgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgeSBhbnRlIHRlcmNlcm9zLiBFbiB0b2RvIGNhc28gbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgc2UgY29tcHJvbWV0ZSBhIGluZGljYXIgc2llbXByZSBsYSBhdXRvcsOtYSBpbmNsdXllbmRvIGVsIG5vbWJyZSBkZWwgYXV0b3IgeSBsYSBmZWNoYSBkZSBwdWJsaWNhY2nDs24uCmUpICAgICAgQXV0b3Jpem8gKGFtb3MpIGEgbGEgVW5pdmVyc2lkYWQgcGFyYSBpbmNsdWlyIGxhIG9icmEgZW4gbG9zIMOtbmRpY2VzIHkgYnVzY2Fkb3JlcyBxdWUgZXN0aW1lbiBuZWNlc2FyaW9zIHBhcmEgcHJvbW92ZXIgc3UgZGlmdXNpw7NuLgpmKSAgICAgIEFjZXB0byAoYW1vcykgcXVlIGxhIFBvbnRpZmljaWEgVW5pdmVyc2lkYWQgSmF2ZXJpYW5hIHB1ZWRhIGNvbnZlcnRpciBlbCBkb2N1bWVudG8gYSBjdWFscXVpZXIgbWVkaW8gbyBmb3JtYXRvIHBhcmEgcHJvcMOzc2l0b3MgZGUgcHJlc2VydmFjacOzbiBkaWdpdGFsLgpnKSAgICAgIEF1dG9yaXpvIChhbW9zKSBxdWUgbGEgb2JyYSBzZWEgcHVlc3RhIGEgZGlzcG9zaWNpw7NuIGRlbCBww7pibGljbyBlbiBsb3MgdMOpcm1pbm9zIGF1dG9yaXphZG9zIGVuIGxvcyBsaXRlcmFsZXMgYW50ZXJpb3JlcyBiYWpvIGxvcyBsw61taXRlcyBkZWZpbmlkb3MgcG9yIGxhIHVuaXZlcnNpZGFkIGVuIGxhcyDigJxDb25kaWNpb25lcyBkZSB1c28gZGUgZXN0cmljdG8gY3VtcGxpbWllbnRv4oCdIGRlIGxvcyByZWN1cnNvcyBwdWJsaWNhZG9zIGVuIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwgUFVKICwgY3V5byB0ZXh0byBjb21wbGV0byBzZSBwdWVkZSBjb25zdWx0YXIgZW4gaHR0cDovL3JlcG9zaXRvcnkuamF2ZXJpYW5hLmVkdS5jby8KClNJIEVMIERPQ1VNRU5UTyBTRSBCQVNBIEVOIFVOIFRSQUJBSk8gUVVFIEhBIFNJRE8gUEFUUk9DSU5BRE8gTyBBUE9ZQURPIFBPUiBVTkEgQUdFTkNJQSBPIFVOQSBPUkdBTklaQUNJw5NOLCBDT04gRVhDRVBDScOTTiBERSBMQSBQT05USUZJQ0lBIFVOSVZFUlNJREFEIEpBVkVSSUFOQSwgRUwgKExPUykgQVVUT1IoRVMpIEdBUkFOVElaQShNT1MpIFFVRSBTRSBIQSBDVU1QTElETyBDT04gTE9TIERFUkVDSE9TIFkgT0JMSUdBQ0lPTkVTIFJFUVVFUklET1MgUE9SIEVMIFJFU1BFQ1RJVk8gQ09OVFJBVE8gTyBBQ1VFUkRPLgo= |