Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Q1

Autores:
Dorling, Leila
Carvalho, Sara
Allen, Jamie
González-Neira, Anna
Luccarini, Craig
Wahlström, Cecilia
Pooley, Karen A.
Parsons, Michael T.
Fortuno, Cristina
Wang, Qin
Bolla, Manjeet K.
Dennis, Joe
Keeman, Renske
Alonso, M. Rosario
Álvarez, Nuria
Herraez, Belen
Fernandez, Victoria
Núñez-Torres, Rocio
Osorio, Ana
Valcich, Jeanette
Li, Minerva
Törngren, Therese
Harrington, Patricia A.
Baynes, Caroline
Conroy, Don M.
Decker, Brennan
Fachal, Laura
Mavaddat, Nasim
Ahearn, Thomas
Aittomäki, Kristiina
Antonenkova, Natalia N.
Arnold, Norbert
Arveux, Patrick
Ausems, Margreet G.E.M.
Auvinen, Päivi
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Bermisheva, Marina
Białkowska, Katarzyna
Blomqvist, Carl
Bogdanova, Natalia V.
Bogdanova-Markov, Nadja
Bojesen, Stig E.
Bonanni, Bernardo
Børresen-Dale, Anne-Lise
Brauch, Hiltrud
Bremer, Michael
Briceño Balcázar, Ignacio
Brüning, Thomas
Burwinkel, Barbara
Cameron, David A.
Camp, Nicola J.
Campbell, Archie
Carracedo, Angel
Castelao, Jose E.
Cessna, Melissa H.
Chanock, Stephen J.
Christiansen, Hans
Collée, J. Margriet
Cordina-Duverger, Emilie
Cornelissen, Sten
Czene, Kamila
Dörk, Thilo
Ekici, Arif B.
Engel, Christoph
Eriksson, Mikael
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Försti, Asta
Gabrielson, Marike
Gago-Dominguez, Manuela
Georgoulias, Vassilios
Gil, Fabian
Giles, Graham G.
Glendon, Gord
Gómez Garcia, Encarna B.
Grenaker Alnæs, Grethe I.
Guénel, Pascal
Hadjisavvas, Andreas
Haeberle, Lothar
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F.
Hartikainen, Jaana M.
Hartman, Mikael
He, Wei
Heemskerk-Gerritsen, Bernadette A. M.
Hillemanns, Peter
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Kee Ho, Weang
Hooning, Maartje J.
Howell, Anthony
Humphreys, Keith
Idris, Faiza
Jakubowska, Anna
Jung, Audrey
Middha Kapoor, Pooja
Kerin, Michael J.
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kosma, Veli-Matti
Kristensen, Vessela N.
Kyriacou, Kyriacos
Lakeman, Inge M. M.
Won Lee, Jong
Hyuk Lee, Min
Li, Jingmei
Lindblom, Annika
Lo, Wing-Yee
Loizidou, Maria A.
Lophatananon, Artitaya
Lubiński, Jan
MacInnis, Robert J.
Madsen, Michael J.
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martinez, Maria Elena
Maurer, Tabea
Mavroudis, Dimitrios
McLean, Catriona
Meindl, Alfons
Mensenkamp, Arjen R.
Michailidou, Kyriaki
Miller, Nicola
Mohd Taib, Nur Aishah
Muir, Kenneth
Mulligan, Anna Marie
Nevanlinna, Heli
Newman, William G.
Nordestgaard, Børge G.
Ng, Pei-Sze
Oosterwijk, Jan C.
Park, Sue K.
Park-Simon, Tjoung-Won
Perez, Jose I.A.
Peterlongo, Paolo
Porteous, David J.
Prajzendanc, Karolina
Prokofyeva, Darya
Radice, Paolo
Rashid, Muhammad U.
Rhenius, Valerie
Rookus, Matti A.
Rüdiger, Thomas
Saloustros, Emmanouil
Sawyer, Elinor J.
Schmutzler, Rita K.
Schneeweiss, Andreas
Schürmann, Peter
Shah, Mitul
Sohn, Christof
Southey, Melissa C.
Surowy, Harald
Suvanto, Maija
Thanasitthichai, Somchai
Tomlinson, Ian
Torres-López, Diana María
Truong, Thérèse
Tzardi, Maria
Valova, Yana
van Asperen, Christi J.
Van Dam, Rob M.
van den Ouweland, Ans M.W.
van der Kolk, Lizet E.
van Veen, Elke M.
Wendt, Camilla
Williams, Justin A.
Yang, Xiaohong R.
Yoon, Sook-Yee
Zamora, M. Pilar
Evans, Gareth D.
de la Hoya, Miguel
Simard, Jacques
Antoniou, Antonis C.
Borg, Åke
Andrulis, Irene L.
Chang-Claude, Jenny
García-Closas, Montserrat
Chenevix-Trench, Georgia
Milne, Roger L.
Pharoah, Paul D. P.
Schmidt, Marjanka K.
Spurdle, Amanda B.
Vreeswijk, Maaike P.G.
Benitez, Javier
Dunning, Alison M.
Kvist, Anders
Teo, Soo H.
Devilee, Peter
Easton, Douglas F.
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:10554/63809
Acceso en línea:
https://www.nejm.org/doi/10.1056/NEJMoa1913948
http://hdl.handle.net/10554/63809
https://doi.org/10.1056/NEJMoa1913948
Palabra clave:
Rights
License
Atribución-NoComercial 4.0 Internacional
id JAVERIANA2_450596855f7ae1f8cf8a08467ed93455
oai_identifier_str oai:repository.javeriana.edu.co:10554/63809
network_acronym_str JAVERIANA2
network_name_str Repositorio Universidad Javeriana
repository_id_str
dc.title.spa.fl_str_mv Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
spellingShingle Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title_short Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title_full Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title_fullStr Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title_full_unstemmed Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
title_sort Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
dc.creator.fl_str_mv Dorling, Leila
Carvalho, Sara
Allen, Jamie
González-Neira, Anna
Luccarini, Craig
Wahlström, Cecilia
Pooley, Karen A.
Parsons, Michael T.
Fortuno, Cristina
Wang, Qin
Bolla, Manjeet K.
Dennis, Joe
Keeman, Renske
Alonso, M. Rosario
Álvarez, Nuria
Herraez, Belen
Fernandez, Victoria
Núñez-Torres, Rocio
Osorio, Ana
Valcich, Jeanette
Li, Minerva
Törngren, Therese
Harrington, Patricia A.
Baynes, Caroline
Conroy, Don M.
Decker, Brennan
Fachal, Laura
Mavaddat, Nasim
Ahearn, Thomas
Aittomäki, Kristiina
Antonenkova, Natalia N.
Arnold, Norbert
Arveux, Patrick
Ausems, Margreet G.E.M.
Auvinen, Päivi
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Bermisheva, Marina
Białkowska, Katarzyna
Blomqvist, Carl
Bogdanova, Natalia V.
Bogdanova-Markov, Nadja
Bojesen, Stig E.
Bonanni, Bernardo
Børresen-Dale, Anne-Lise
Brauch, Hiltrud
Bremer, Michael
Briceño Balcázar, Ignacio
Brüning, Thomas
Burwinkel, Barbara
Cameron, David A.
Camp, Nicola J.
Campbell, Archie
Carracedo, Angel
Castelao, Jose E.
Cessna, Melissa H.
Chanock, Stephen J.
Christiansen, Hans
Collée, J. Margriet
Cordina-Duverger, Emilie
Cornelissen, Sten
Czene, Kamila
Dörk, Thilo
Ekici, Arif B.
Engel, Christoph
Eriksson, Mikael
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Försti, Asta
Gabrielson, Marike
Gago-Dominguez, Manuela
Georgoulias, Vassilios
Gil, Fabian
Giles, Graham G.
Glendon, Gord
Gómez Garcia, Encarna B.
Grenaker Alnæs, Grethe I.
Guénel, Pascal
Hadjisavvas, Andreas
Haeberle, Lothar
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F.
Hartikainen, Jaana M.
Hartman, Mikael
He, Wei
Heemskerk-Gerritsen, Bernadette A. M.
Hillemanns, Peter
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Kee Ho, Weang
Hooning, Maartje J.
Howell, Anthony
Humphreys, Keith
Idris, Faiza
Jakubowska, Anna
Jung, Audrey
Middha Kapoor, Pooja
Kerin, Michael J.
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kosma, Veli-Matti
Kristensen, Vessela N.
Kyriacou, Kyriacos
Lakeman, Inge M. M.
Won Lee, Jong
Hyuk Lee, Min
Li, Jingmei
Lindblom, Annika
Lo, Wing-Yee
Loizidou, Maria A.
Lophatananon, Artitaya
Lubiński, Jan
MacInnis, Robert J.
Madsen, Michael J.
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martinez, Maria Elena
Maurer, Tabea
Mavroudis, Dimitrios
McLean, Catriona
Meindl, Alfons
Mensenkamp, Arjen R.
Michailidou, Kyriaki
Miller, Nicola
Mohd Taib, Nur Aishah
Muir, Kenneth
Mulligan, Anna Marie
Nevanlinna, Heli
Newman, William G.
Nordestgaard, Børge G.
Ng, Pei-Sze
Oosterwijk, Jan C.
Park, Sue K.
Park-Simon, Tjoung-Won
Perez, Jose I.A.
Peterlongo, Paolo
Porteous, David J.
Prajzendanc, Karolina
Prokofyeva, Darya
Radice, Paolo
Rashid, Muhammad U.
Rhenius, Valerie
Rookus, Matti A.
Rüdiger, Thomas
Saloustros, Emmanouil
Sawyer, Elinor J.
Schmutzler, Rita K.
Schneeweiss, Andreas
Schürmann, Peter
Shah, Mitul
Sohn, Christof
Southey, Melissa C.
Surowy, Harald
Suvanto, Maija
Thanasitthichai, Somchai
Tomlinson, Ian
Torres-López, Diana María
Truong, Thérèse
Tzardi, Maria
Valova, Yana
van Asperen, Christi J.
Van Dam, Rob M.
van den Ouweland, Ans M.W.
van der Kolk, Lizet E.
van Veen, Elke M.
Wendt, Camilla
Williams, Justin A.
Yang, Xiaohong R.
Yoon, Sook-Yee
Zamora, M. Pilar
Evans, Gareth D.
de la Hoya, Miguel
Simard, Jacques
Antoniou, Antonis C.
Borg, Åke
Andrulis, Irene L.
Chang-Claude, Jenny
García-Closas, Montserrat
Chenevix-Trench, Georgia
Milne, Roger L.
Pharoah, Paul D. P.
Schmidt, Marjanka K.
Spurdle, Amanda B.
Vreeswijk, Maaike P.G.
Benitez, Javier
Dunning, Alison M.
Kvist, Anders
Teo, Soo H.
Devilee, Peter
Easton, Douglas F.
dc.contributor.author.none.fl_str_mv Dorling, Leila
Carvalho, Sara
Allen, Jamie
González-Neira, Anna
Luccarini, Craig
Wahlström, Cecilia
Pooley, Karen A.
Parsons, Michael T.
Fortuno, Cristina
Wang, Qin
Bolla, Manjeet K.
Dennis, Joe
Keeman, Renske
Alonso, M. Rosario
Álvarez, Nuria
Herraez, Belen
Fernandez, Victoria
Núñez-Torres, Rocio
Osorio, Ana
Valcich, Jeanette
Li, Minerva
Törngren, Therese
Harrington, Patricia A.
Baynes, Caroline
Conroy, Don M.
Decker, Brennan
Fachal, Laura
Mavaddat, Nasim
Ahearn, Thomas
Aittomäki, Kristiina
Antonenkova, Natalia N.
Arnold, Norbert
Arveux, Patrick
Ausems, Margreet G.E.M.
Auvinen, Päivi
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Bermisheva, Marina
Białkowska, Katarzyna
Blomqvist, Carl
Bogdanova, Natalia V.
Bogdanova-Markov, Nadja
Bojesen, Stig E.
Bonanni, Bernardo
Børresen-Dale, Anne-Lise
Brauch, Hiltrud
Bremer, Michael
Briceño Balcázar, Ignacio
Brüning, Thomas
Burwinkel, Barbara
Cameron, David A.
Camp, Nicola J.
Campbell, Archie
Carracedo, Angel
Castelao, Jose E.
Cessna, Melissa H.
Chanock, Stephen J.
Christiansen, Hans
Collée, J. Margriet
Cordina-Duverger, Emilie
Cornelissen, Sten
Czene, Kamila
Dörk, Thilo
Ekici, Arif B.
Engel, Christoph
Eriksson, Mikael
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Försti, Asta
Gabrielson, Marike
Gago-Dominguez, Manuela
Georgoulias, Vassilios
Gil, Fabian
Giles, Graham G.
Glendon, Gord
Gómez Garcia, Encarna B.
Grenaker Alnæs, Grethe I.
Guénel, Pascal
Hadjisavvas, Andreas
Haeberle, Lothar
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F.
Hartikainen, Jaana M.
Hartman, Mikael
He, Wei
Heemskerk-Gerritsen, Bernadette A. M.
Hillemanns, Peter
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Kee Ho, Weang
Hooning, Maartje J.
Howell, Anthony
Humphreys, Keith
Idris, Faiza
Jakubowska, Anna
Jung, Audrey
Middha Kapoor, Pooja
Kerin, Michael J.
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kosma, Veli-Matti
Kristensen, Vessela N.
Kyriacou, Kyriacos
Lakeman, Inge M. M.
Won Lee, Jong
Hyuk Lee, Min
Li, Jingmei
Lindblom, Annika
Lo, Wing-Yee
Loizidou, Maria A.
Lophatananon, Artitaya
Lubiński, Jan
MacInnis, Robert J.
Madsen, Michael J.
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martinez, Maria Elena
Maurer, Tabea
Mavroudis, Dimitrios
McLean, Catriona
Meindl, Alfons
Mensenkamp, Arjen R.
Michailidou, Kyriaki
Miller, Nicola
Mohd Taib, Nur Aishah
Muir, Kenneth
Mulligan, Anna Marie
Nevanlinna, Heli
Newman, William G.
Nordestgaard, Børge G.
Ng, Pei-Sze
Oosterwijk, Jan C.
Park, Sue K.
Park-Simon, Tjoung-Won
Perez, Jose I.A.
Peterlongo, Paolo
Porteous, David J.
Prajzendanc, Karolina
Prokofyeva, Darya
Radice, Paolo
Rashid, Muhammad U.
Rhenius, Valerie
Rookus, Matti A.
Rüdiger, Thomas
Saloustros, Emmanouil
Sawyer, Elinor J.
Schmutzler, Rita K.
Schneeweiss, Andreas
Schürmann, Peter
Shah, Mitul
Sohn, Christof
Southey, Melissa C.
Surowy, Harald
Suvanto, Maija
Thanasitthichai, Somchai
Tomlinson, Ian
Torres-López, Diana María
Truong, Thérèse
Tzardi, Maria
Valova, Yana
van Asperen, Christi J.
Van Dam, Rob M.
van den Ouweland, Ans M.W.
van der Kolk, Lizet E.
van Veen, Elke M.
Wendt, Camilla
Williams, Justin A.
Yang, Xiaohong R.
Yoon, Sook-Yee
Zamora, M. Pilar
Evans, Gareth D.
de la Hoya, Miguel
Simard, Jacques
Antoniou, Antonis C.
Borg, Åke
Andrulis, Irene L.
Chang-Claude, Jenny
García-Closas, Montserrat
Chenevix-Trench, Georgia
Milne, Roger L.
Pharoah, Paul D. P.
Schmidt, Marjanka K.
Spurdle, Amanda B.
Vreeswijk, Maaike P.G.
Benitez, Javier
Dunning, Alison M.
Kvist, Anders
Teo, Soo H.
Devilee, Peter
Easton, Douglas F.
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 Briceño Balcázar, Ignacio
Gil, Fabian
Torres-López, Diana María
description Q1
publishDate 2021
dc.date.created.none.fl_str_mv 2021-01-20
dc.date.accessioned.none.fl_str_mv 2023-03-16T17:58:53Z
dc.date.available.none.fl_str_mv 2023-03-16T17:58:53Z
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.nejm.org/doi/10.1056/NEJMoa1913948
dc.identifier.issn.spa.fl_str_mv 0028-4793 / 1533-4406 (Electrónico)
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10554/63809
dc.identifier.doi.spa.fl_str_mv https://doi.org/10.1056/NEJMoa1913948
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.nejm.org/doi/10.1056/NEJMoa1913948
http://hdl.handle.net/10554/63809
https://doi.org/10.1056/NEJMoa1913948
identifier_str_mv 0028-4793 / 1533-4406 (Electrónico)
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 428
dc.relation.citationendpage.spa.fl_str_mv 439
dc.relation.ispartofjournal.spa.fl_str_mv New England Journal of Medicine
dc.relation.citationvolume.spa.fl_str_mv 384
dc.relation.citationissue.spa.fl_str_mv 5
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/
dc.rights.coar.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv Atribución-NoComercial 4.0 Internacional
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http://purl.org/coar/access_right/c_abf2
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dc.coverage.temporal.none.fl_str_mv 2016
institution Pontificia Universidad Javeriana
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spelling Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Dorling, LeilaCarvalho, SaraAllen, JamieGonzález-Neira, AnnaLuccarini, CraigWahlström, CeciliaPooley, Karen A.Parsons, Michael T.Fortuno, CristinaWang, QinBolla, Manjeet K.Dennis, JoeKeeman, RenskeAlonso, M. RosarioÁlvarez, NuriaHerraez, BelenFernandez, VictoriaNúñez-Torres, RocioOsorio, AnaValcich, JeanetteLi, MinervaTörngren, ThereseHarrington, Patricia A.Baynes, CarolineConroy, Don M.Decker, BrennanFachal, LauraMavaddat, NasimAhearn, ThomasAittomäki, KristiinaAntonenkova, Natalia N.Arnold, NorbertArveux, PatrickAusems, Margreet G.E.M.Auvinen, PäiviBecher, HeikoBeckmann, Matthias W.Behrens, SabineBermisheva, MarinaBiałkowska, KatarzynaBlomqvist, CarlBogdanova, Natalia V.Bogdanova-Markov, NadjaBojesen, Stig E.Bonanni, BernardoBørresen-Dale, Anne-LiseBrauch, HiltrudBremer, MichaelBriceño Balcázar, IgnacioBrüning, ThomasBurwinkel, BarbaraCameron, David A.Camp, Nicola J.Campbell, ArchieCarracedo, AngelCastelao, Jose E.Cessna, Melissa H.Chanock, Stephen J.Christiansen, HansCollée, J. MargrietCordina-Duverger, EmilieCornelissen, StenCzene, KamilaDörk, ThiloEkici, Arif B.Engel, ChristophEriksson, MikaelFasching, Peter A.Figueroa, JonineFlyger, HenrikFörsti, AstaGabrielson, MarikeGago-Dominguez, ManuelaGeorgoulias, VassiliosGil, FabianGiles, Graham G.Glendon, GordGómez Garcia, Encarna B.Grenaker Alnæs, Grethe I.Guénel, PascalHadjisavvas, AndreasHaeberle, LotharHahnen, EricHall, PerHamann, UteHarkness, Elaine F.Hartikainen, Jaana M.Hartman, MikaelHe, WeiHeemskerk-Gerritsen, Bernadette A. M.Hillemanns, PeterHogervorst, Frans B. L.Hollestelle, AntoinetteKee Ho, WeangHooning, Maartje J.Howell, AnthonyHumphreys, KeithIdris, FaizaJakubowska, AnnaJung, AudreyMiddha Kapoor, PoojaKerin, Michael J.Khusnutdinova, ElzaKim, Sung-WonKo, Yon-DschunKosma, Veli-MattiKristensen, Vessela N.Kyriacou, KyriacosLakeman, Inge M. M.Won Lee, JongHyuk Lee, MinLi, JingmeiLindblom, AnnikaLo, Wing-YeeLoizidou, Maria A.Lophatananon, ArtitayaLubiński, JanMacInnis, Robert J.Madsen, Michael J.Mannermaa, ArtoManoochehri, MehdiManoukian, SiranoushMargolin, SaraMartinez, Maria ElenaMaurer, TabeaMavroudis, DimitriosMcLean, CatrionaMeindl, AlfonsMensenkamp, Arjen R.Michailidou, KyriakiMiller, NicolaMohd Taib, Nur AishahMuir, KennethMulligan, Anna MarieNevanlinna, HeliNewman, William G.Nordestgaard, Børge G.Ng, Pei-SzeOosterwijk, Jan C.Park, Sue K.Park-Simon, Tjoung-WonPerez, Jose I.A.Peterlongo, PaoloPorteous, David J.Prajzendanc, KarolinaProkofyeva, DaryaRadice, PaoloRashid, Muhammad U.Rhenius, ValerieRookus, Matti A.Rüdiger, ThomasSaloustros, EmmanouilSawyer, Elinor J.Schmutzler, Rita K.Schneeweiss, AndreasSchürmann, PeterShah, MitulSohn, ChristofSouthey, Melissa C.Surowy, HaraldSuvanto, MaijaThanasitthichai, SomchaiTomlinson, IanTorres-López, Diana MaríaTruong, ThérèseTzardi, MariaValova, Yanavan Asperen, Christi J.Van Dam, Rob M.van den Ouweland, Ans M.W.van der Kolk, Lizet E.van Veen, Elke M.Wendt, CamillaWilliams, Justin A.Yang, Xiaohong R.Yoon, Sook-YeeZamora, M. PilarEvans, Gareth D.de la Hoya, MiguelSimard, JacquesAntoniou, Antonis C.Borg, ÅkeAndrulis, Irene L.Chang-Claude, JennyGarcía-Closas, MontserratChenevix-Trench, GeorgiaMilne, Roger L.Pharoah, Paul D. P.Schmidt, Marjanka K.Spurdle, Amanda B.Vreeswijk, Maaike P.G.Benitez, JavierDunning, Alison M.Kvist, AndersTeo, Soo H.Devilee, PeterEaston, Douglas F.Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaBriceño Balcázar, IgnacioGil, FabianTorres-López, Diana MaríaReino Unido20162023-03-16T17:58:53Z2023-03-16T17:58:53Z2021-01-20https://www.nejm.org/doi/10.1056/NEJMoa19139480028-4793 / 1533-4406 (Electrónico)http://hdl.handle.net/10554/63809https://doi.org/10.1056/NEJMoa1913948instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengBreast Cancer Risk Genes — Association Analysis in More than 113,000 WomenArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q1Q1Mujeres con Cáncer de mamaBACKGROUND: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity. RESULTS: Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)–positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants. CONCLUSIONS: The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.)https://orcid.org/0000-0001-7300-6401https://orcid.org/0000-0001-6444-7248https://orcid.org/0000-0002-9879-9775Revista Internacional - IndexadaA1No428439New England Journal of Medicine3845ORIGINALBreast Cancer Risk Genes — Association Analysis in More than 113,000 Women.pdfBreast Cancer Risk Genes — Association Analysis in More than 113,000 Women.pdfArtículoapplication/pdf571932http://repository.javeriana.edu.co/bitstream/10554/63809/1/Breast%20Cancer%20Risk%20Genes%20%e2%80%94%20Association%20Analysis%20in%20More%20than%20113%2c000%20Women.pdf37af8381f92f2885ee2f4325817f9344MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63809/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILBreast Cancer Risk Genes — Association Analysis in More than 113,000 Women.pdf.jpgBreast Cancer Risk Genes — Association Analysis in More than 113,000 Women.pdf.jpgIM Thumbnailimage/jpeg9114http://repository.javeriana.edu.co/bitstream/10554/63809/3/Breast%20Cancer%20Risk%20Genes%20%e2%80%94%20Association%20Analysis%20in%20More%20than%20113%2c000%20Women.pdf.jpg3b03758fd0a984222ef4c905ae921d29MD53open access10554/63809oai:repository.javeriana.edu.co:10554/638092023-03-19 03:04:47.351Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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