The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Viz Lasheras, Sandra; Caleca, Roser; Kiiski, Johanna; Muranen, Taru; Barnes, Daniel; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet; Leslie, Goska; Aalfs, Cora; ABCTB Investigators; Adank, Muriel; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni; Ahearn, Thomas; Aittomäki, Kristiina; Ambrosone, Christine; Andrews, Lesley; Culver, Hoda Anton; Antonenkova, Natalia; Arndt, Volker; Aronson, Kristan; Arun, Banu; Asseryanis, Ella; Auber, Bernd; Auvinen, Päivi; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa; Barrowdale, Daniel; Barwell, Julian; Beane Freeman, Laura; Beauparlant, Charles; Beckmann, Matthias; Behrens, Sabine; Benitez, Javier; Berger, Raanan; Bermisheva, Marina; Blanco, Amie; Blomqvist, Carl; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig; Bonanni, Bernardo; Borg, Ake; Brady, Angela; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria; Campa, Daniele; Campbell, Ian; Canzian, Federico; Castelao, Jose; Claude, Jenny; Chanock, Stephen; Claes, Kathleen; Clarke, Christine; Collavoli, Anita; Conner, Thomas; Cox, David; Cybulski, Cezary; Czene, Kamila; Daly, Mary; de la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan; Dite, Gillian; Ditsch, Nina; Domchek, Susan; Dorfling, Cecilia; dos Santos Silva, Isabel; Durda, Katarzyna; Dwek, Miriam; Eccles, Diana; Ekici, Arif; Eliassen, Heather; Ellberg, Carolina; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter; Figueroa, Jonine; Flyger, Henrik; Foulkes, William; Friebel, Tara; Friedman, Eitan; Gabrielson, Marike; Gaddam, Pragna; Gago Dominguez, Manuela; Gao, Chi; Gapstur, Susan; Garber, Judy; García Closas, Montserrat; García Sáenz, José Angel; Gaudet, Mia; Gayther, Simon; GEMO Study Collaborators; Giles, Graham; Glendon, Gord; Godwin, Andrew; Goldberg, Mark; Goldgar, David; Guénel, Pascal; Gutierrez Barrera, Angelica; Haeberle, Lothar; Haiman, Christopher; Håkansson, Niclas; Hall, Per; Hamann, Ute; Harrington, Patricia; Hein, Alexander; Heyworth, Jane; Hillemanns, Peter; Hollestelle, Antoinette; Hopper, John; Hosgood, Dean; Howell, Anthony; Hu, Chunling; Hulick, Peter; Hunter, David; Imyanitov, Evgeny; Fab, KCon; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; John, Esther; Jones, Michael; Jung, Audrey; Kaaks, Rudolf; Karlan, Beth; Khusnutdinova, Elza; Kitahara, Cari; Konstantopoulou, Irene; Koutros, Stella; Kraft, Peter; Lambrechts, Diether; Lazaro, Conxi; Marchand, Loic; Lester, Jenny; Lesueur, Fabienne; Lilyquist, Jenna; Loud, Jennifer; Lu, Karen; Luben, Robert; Lubinski, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martens, John; Maurer, Tabea; Mavroudis, Dimitrios; Mebirouk, Noura; Meindl, Alfons; Menon, Usha; Miller, Austin; Montagna, Marco; Nathanson, Katherine; Neuhausen, Susan; Newman, William; Dumont, Tu Nguyen; Nielsen, Finn Cilius; Nielsen, Sarah; Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo; Olshan, Andrew; Olson, Janet; Olsson, Håkan; Osorio, Ana; Ottini, Laura; Peissel, Bernard; Peixoto, Ana; Peto, Julian; Karanfilska, Dijana; Pocza, Timea; Presneau, Nadege; Pujana, Miguel Ángel; Punie, Kevin; Rack, Brigitte; Rantala, Johanna; Rashid, Muhammad; Murthy, Rohini; Rennert, Gad; Lejbkowicz, Flavio; Rhenius, Valerie; Romero, Atocha; Rookus, Matti; Ross, Eric; Rossing, Maria; Rudaitis, Vilius; Ruebner, Matthias; Saloustros, Emmanouil; Sanden, Kristin; Santamariña, Marta; Scheuner, Maren; Schmutzler, Rita; Schneider, Michael; Scott, Christopher; Senter, Leigha; Shah, Mitul; Sharma, Priyanka; Shu, Xiao; Simard, Jacques; Singer, Christian; Sohn, Christof; Soucy, Penny; Southey, Melissa; Spinelli, John; Steele, Linda; Lyonnet, Dominique; Tapper, William; Teixeira, Manuel; Terry, Mary; Thomassen, Mads; Thompson, Jennifer; Thull, Darcy; Tischkowitz, Marc; Tollenaar, Rob; Torres-López, Diana María; Troester, Melissa; Truong, Thérèse; Tung, Nadine; Untch, Michael; Vachon, Celine; van Rensburg, Elizabeth; van Veen, Elke; Vega, Ana; Viel, Alessandra; Wappenschmidt, Barbara; Weitzel, Jeffrey; Wendt, Camilla; Wieme, Greet; Wolk, Alicja; Yang, Xiaohong; Zheng, Wei; Ziogas, Argyrios; Zorn, Kristin; Dunning, Alison; Lush, Michael; Wang, Qin; McGuffog, Lesley; Parsons, Michael; Pharoah, Paul; Fostira, Florentia; Toland, Amanda; Andrulis, Irene; Ramus, Susan; Swerdlow, Anthony; Greene, Mark; Chung, Wendy; Milne, Roger; Trench, Georgia; Dörk, Thilo; Schmidt, Marjanka; Easton, Douglas; Radice, Paolo; Hahnen, Eric; Antoniou, Antonis; Couch, Fergus; Nevanlinna, Heli; Surrallés, Jordi; Peterlongo, Paolo; KConFab

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Date

2019-11-01

Authors

Figlioli, Gisella
Bogliolo, Massimo
Catucci, Irene
Caleca, Laura
Viz Lasheras, Sandra
Caleca, Roser
Kiiski, Johanna
Muranen, Taru
Barnes, Daniel
Dennis, Joe
Michailidou, Kyriaki
Bolla, Manjeet
Leslie, Goska
Aalfs, Cora
ABCTB Investigators
Adank, Muriel
Adlard, Julian
Agata, Simona
Cadoo, Karen
Agnarsson, Bjarni
Ahearn, Thomas
Aittomäki, Kristiina
Ambrosone, Christine
Andrews, Lesley
Culver, Hoda Anton
Antonenkova, Natalia
Arndt, Volker
Aronson, Kristan
Arun, Banu
Asseryanis, Ella
Auber, Bernd
Auvinen, Päivi
Azzollini, Jacopo
Balmaña, Judith
Barkardottir, Rosa
Barrowdale, Daniel
Barwell, Julian
Beane Freeman, Laura
Beauparlant, Charles
Beckmann, Matthias
Behrens, Sabine
Benitez, Javier
Berger, Raanan
Bermisheva, Marina
Blanco, Amie
Blomqvist, Carl
Bogdanova, Natalia
Bojesen, Anders
Bojesen, Stig
Bonanni, Bernardo
Borg, Ake
Brady, Angela
Brauch, Hiltrud
Brenner, Hermann
Brüning, Thomas
Burwinkel, Barbara
Buys, Saundra
Caldés, Trinidad
Caliebe, Almuth
Caligo, Maria
Campa, Daniele
Campbell, Ian
Canzian, Federico
Castelao, Jose
Claude, Jenny
Chanock, Stephen
Claes, Kathleen
Clarke, Christine
Collavoli, Anita
Conner, Thomas
Cox, David
Cybulski, Cezary
Czene, Kamila
Daly, Mary
de la Hoya, Miguel
Devilee, Peter
Diez, Orland
Ding, Yuan
Dite, Gillian
Ditsch, Nina
Domchek, Susan
Dorfling, Cecilia
dos Santos Silva, Isabel
Durda, Katarzyna
Dwek, Miriam
Eccles, Diana
Ekici, Arif
Eliassen, Heather
Ellberg, Carolina
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter
Figueroa, Jonine
Flyger, Henrik
Foulkes, William
Friebel, Tara
Friedman, Eitan
Gabrielson, Marike
Gaddam, Pragna
Gago Dominguez, Manuela
Gao, Chi
Gapstur, Susan
Garber, Judy
García Closas, Montserrat
García Sáenz, José Angel
Gaudet, Mia
Gayther, Simon
GEMO Study Collaborators
Giles, Graham
Glendon, Gord
Godwin, Andrew
Goldberg, Mark
Goldgar, David
Guénel, Pascal
Gutierrez Barrera, Angelica
Haeberle, Lothar
Haiman, Christopher
Håkansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia
Hein, Alexander
Heyworth, Jane
Hillemanns, Peter
Hollestelle, Antoinette
Hopper, John
Hosgood, Dean
Howell, Anthony
Hu, Chunling
Hulick, Peter
Hunter, David
Imyanitov, Evgeny
Fab, KCon
Isaacs, Claudine
Jakimovska, Milena
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Janni, Wolfgang
John, Esther
Jones, Michael
Jung, Audrey
Kaaks, Rudolf
Karlan, Beth
Khusnutdinova, Elza
Kitahara, Cari
Konstantopoulou, Irene
Koutros, Stella
Kraft, Peter
Lambrechts, Diether
Lazaro, Conxi
Marchand, Loic
Lester, Jenny
Lesueur, Fabienne
Lilyquist, Jenna
Loud, Jennifer
Lu, Karen
Luben, Robert
Lubinski, Jan
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martens, John
Maurer, Tabea
Mavroudis, Dimitrios
Mebirouk, Noura
Meindl, Alfons
Menon, Usha
Miller, Austin
Montagna, Marco
Nathanson, Katherine
Neuhausen, Susan
Newman, William
Dumont, Tu Nguyen
Nielsen, Finn Cilius
Nielsen, Sarah
Zake, Liene
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo
Olshan, Andrew
Olson, Janet
Olsson, Håkan
Osorio, Ana
Ottini, Laura
Peissel, Bernard
Peixoto, Ana
Peto, Julian
Karanfilska, Dijana
Pocza, Timea
Presneau, Nadege
Pujana, Miguel Ángel
Punie, Kevin
Rack, Brigitte
Rantala, Johanna
Rashid, Muhammad
Murthy, Rohini
Rennert, Gad
Lejbkowicz, Flavio
Rhenius, Valerie
Romero, Atocha
Rookus, Matti
Ross, Eric
Rossing, Maria
Rudaitis, Vilius
Ruebner, Matthias
Saloustros, Emmanouil
Sanden, Kristin
Santamariña, Marta
Scheuner, Maren
Schmutzler, Rita
Schneider, Michael
Scott, Christopher
Senter, Leigha
Shah, Mitul
Sharma, Priyanka
Shu, Xiao
Simard, Jacques
Singer, Christian
Sohn, Christof
Soucy, Penny
Southey, Melissa
Spinelli, John
Steele, Linda
Lyonnet, Dominique
Tapper, William
Teixeira, Manuel
Terry, Mary
Thomassen, Mads
Thompson, Jennifer
Thull, Darcy
Tischkowitz, Marc
Tollenaar, Rob
Torres-López, Diana María
Troester, Melissa
Truong, Thérèse
Tung, Nadine
Untch, Michael
Vachon, Celine
van Rensburg, Elizabeth
van Veen, Elke
Vega, Ana
Viel, Alessandra
Wappenschmidt, Barbara
Weitzel, Jeffrey
Wendt, Camilla
Wieme, Greet
Wolk, Alicja
Yang, Xiaohong
Zheng, Wei
Ziogas, Argyrios
Zorn, Kristin
Dunning, Alison
Lush, Michael
Wang, Qin
McGuffog, Lesley
Parsons, Michael
Pharoah, Paul
Fostira, Florentia
Toland, Amanda
Andrulis, Irene
Ramus, Susan
Swerdlow, Anthony
Greene, Mark
Chung, Wendy
Milne, Roger
Trench, Georgia
Dörk, Thilo
Schmidt, Marjanka
Easton, Douglas
Radice, Paolo
Hahnen, Eric
Antoniou, Antonis
Couch, Fergus
Nevanlinna, Heli
Surrallés, Jordi
Peterlongo, Paolo
KConFab

Corporate Author(s)

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana

Type

Artículo de revista

ISSN

2374-4677

Pages

1 - 14

Item type

Completo

TY - GEN T1 - The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer AU - Figlioli, Gisella AU - Bogliolo, Massimo AU - Catucci, Irene AU - Caleca, Laura AU - Viz Lasheras, Sandra AU - Caleca, Roser AU - Kiiski, Johanna AU - Muranen, Taru AU - Barnes, Daniel AU - Dennis, Joe AU - Michailidou, Kyriaki AU - Bolla, Manjeet AU - Leslie, Goska AU - Aalfs, Cora AU - ABCTB Investigators AU - Adank, Muriel AU - Adlard, Julian AU - Agata, Simona AU - Cadoo, Karen AU - Agnarsson, Bjarni AU - Ahearn, Thomas AU - Aittomäki, Kristiina AU - Ambrosone, Christine AU - Andrews, Lesley AU - Culver, Hoda Anton AU - Antonenkova, Natalia AU - Arndt, Volker AU - Aronson, Kristan AU - Arun, Banu AU - Asseryanis, Ella AU - Auber, Bernd AU - Auvinen, Päivi AU - Azzollini, Jacopo AU - Balmaña, Judith AU - Barkardottir, Rosa AU - Barrowdale, Daniel AU - Barwell, Julian AU - Beane Freeman, Laura AU - Beauparlant, Charles AU - Beckmann, Matthias AU - Behrens, Sabine AU - Benitez, Javier AU - Berger, Raanan AU - Bermisheva, Marina AU - Blanco, Amie AU - Blomqvist, Carl AU - Bogdanova, Natalia AU - Bojesen, Anders AU - Bojesen, Stig AU - Bonanni, Bernardo AU - Borg, Ake AU - Brady, Angela AU - Brauch, Hiltrud AU - Brenner, Hermann AU - Brüning, Thomas AU - Burwinkel, Barbara AU - Buys, Saundra AU - Caldés, Trinidad AU - Caliebe, Almuth AU - Caligo, Maria AU - Campa, Daniele AU - Campbell, Ian AU - Canzian, Federico AU - Castelao, Jose AU - Claude, Jenny AU - Chanock, Stephen AU - Claes, Kathleen AU - Clarke, Christine AU - Collavoli, Anita AU - Conner, Thomas AU - Cox, David AU - Cybulski, Cezary AU - Czene, Kamila AU - Daly, Mary AU - de la Hoya, Miguel AU - Devilee, Peter AU - Diez, Orland AU - Ding, Yuan AU - Dite, Gillian AU - Ditsch, Nina AU - Domchek, Susan AU - Dorfling, Cecilia AU - dos Santos Silva, Isabel AU - Durda, Katarzyna AU - Dwek, Miriam AU - Eccles, Diana AU - Ekici, Arif AU - Eliassen, Heather AU - Ellberg, Carolina AU - Eriksson, Mikael AU - Evans, D. Gareth AU - Fasching, Peter AU - Figueroa, Jonine AU - Flyger, Henrik AU - Foulkes, William AU - Friebel, Tara AU - Friedman, Eitan AU - Gabrielson, Marike AU - Gaddam, Pragna AU - Gago Dominguez, Manuela AU - Gao, Chi AU - Gapstur, Susan AU - Garber, Judy AU - García Closas, Montserrat AU - García Sáenz, José Angel AU - Gaudet, Mia AU - Gayther, Simon AU - GEMO Study Collaborators AU - Giles, Graham AU - Glendon, Gord AU - Godwin, Andrew AU - Goldberg, Mark AU - Goldgar, David AU - Guénel, Pascal AU - Gutierrez Barrera, Angelica AU - Haeberle, Lothar AU - Haiman, Christopher AU - Håkansson, Niclas AU - Hall, Per AU - Hamann, Ute AU - Harrington, Patricia AU - Hein, Alexander AU - Heyworth, Jane AU - Hillemanns, Peter AU - Hollestelle, Antoinette AU - Hopper, John AU - Hosgood, Dean AU - Howell, Anthony AU - Hu, Chunling AU - Hulick, Peter AU - Hunter, David AU - Imyanitov, Evgeny AU - Fab, KCon AU - Isaacs, Claudine AU - Jakimovska, Milena AU - Jakubowska, Anna AU - James, Paul AU - Janavicius, Ramunas AU - Janni, Wolfgang AU - John, Esther AU - Jones, Michael AU - Jung, Audrey AU - Kaaks, Rudolf AU - Karlan, Beth AU - Khusnutdinova, Elza AU - Kitahara, Cari AU - Konstantopoulou, Irene AU - Koutros, Stella AU - Kraft, Peter AU - Lambrechts, Diether AU - Lazaro, Conxi AU - Marchand, Loic AU - Lester, Jenny AU - Lesueur, Fabienne AU - Lilyquist, Jenna AU - Loud, Jennifer AU - Lu, Karen AU - Luben, Robert AU - Lubinski, Jan AU - Mannermaa, Arto AU - Manoochehri, Mehdi AU - Manoukian, Siranoush AU - Margolin, Sara AU - Martens, John AU - Maurer, Tabea AU - Mavroudis, Dimitrios AU - Mebirouk, Noura AU - Meindl, Alfons AU - Menon, Usha AU - Miller, Austin AU - Montagna, Marco AU - Nathanson, Katherine AU - Neuhausen, Susan AU - Newman, William AU - Dumont, Tu Nguyen AU - Nielsen, Finn Cilius AU - Nielsen, Sarah AU - Zake, Liene AU - Offit, Kenneth AU - Olah, Edith AU - Olopade, Olufunmilayo AU - Olshan, Andrew AU - Olson, Janet AU - Olsson, Håkan AU - Osorio, Ana AU - Ottini, Laura AU - Peissel, Bernard AU - Peixoto, Ana AU - Peto, Julian AU - Karanfilska, Dijana AU - Pocza, Timea AU - Presneau, Nadege AU - Pujana, Miguel Ángel AU - Punie, Kevin AU - Rack, Brigitte AU - Rantala, Johanna AU - Rashid, Muhammad AU - Murthy, Rohini AU - Rennert, Gad AU - Lejbkowicz, Flavio AU - Rhenius, Valerie AU - Romero, Atocha AU - Rookus, Matti AU - Ross, Eric AU - Rossing, Maria AU - Rudaitis, Vilius AU - Ruebner, Matthias AU - Saloustros, Emmanouil AU - Sanden, Kristin AU - Santamariña, Marta AU - Scheuner, Maren AU - Schmutzler, Rita AU - Schneider, Michael AU - Scott, Christopher AU - Senter, Leigha AU - Shah, Mitul AU - Sharma, Priyanka AU - Shu, Xiao AU - Simard, Jacques AU - Singer, Christian AU - Sohn, Christof AU - Soucy, Penny AU - Southey, Melissa AU - Spinelli, John AU - Steele, Linda AU - Lyonnet, Dominique AU - Tapper, William AU - Teixeira, Manuel AU - Terry, Mary AU - Thomassen, Mads AU - Thompson, Jennifer AU - Thull, Darcy AU - Tischkowitz, Marc AU - Tollenaar, Rob AU - Torres-López, Diana María AU - Troester, Melissa AU - Truong, Thérèse AU - Tung, Nadine AU - Untch, Michael AU - Vachon, Celine AU - van Rensburg, Elizabeth AU - van Veen, Elke AU - Vega, Ana AU - Viel, Alessandra AU - Wappenschmidt, Barbara AU - Weitzel, Jeffrey AU - Wendt, Camilla AU - Wieme, Greet AU - Wolk, Alicja AU - Yang, Xiaohong AU - Zheng, Wei AU - Ziogas, Argyrios AU - Zorn, Kristin AU - Dunning, Alison AU - Lush, Michael AU - Wang, Qin AU - McGuffog, Lesley AU - Parsons, Michael AU - Pharoah, Paul AU - Fostira, Florentia AU - Toland, Amanda AU - Andrulis, Irene AU - Ramus, Susan AU - Swerdlow, Anthony AU - Greene, Mark AU - Chung, Wendy AU - Milne, Roger AU - Trench, Georgia AU - Dörk, Thilo AU - Schmidt, Marjanka AU - Easton, Douglas AU - Radice, Paolo AU - Hahnen, Eric AU - Antoniou, Antonis AU - Couch, Fergus AU - Nevanlinna, Heli AU - Surrallés, Jordi AU - Peterlongo, Paolo AU - KConFab Y1 - 2019-11-01 UR - http://hdl.handle.net/10554/47630 AB - ER - RT Generic T1 The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer A1 Figlioli, Gisella A1 Bogliolo, Massimo A1 Catucci, Irene A1 Caleca, Laura A1 Viz Lasheras, Sandra A1 Caleca, Roser A1 Kiiski, Johanna A1 Muranen, Taru A1 Barnes, Daniel A1 Dennis, Joe A1 Michailidou, Kyriaki A1 Bolla, Manjeet A1 Leslie, Goska A1 Aalfs, Cora A1 ABCTB Investigators A1 Adank, Muriel A1 Adlard, Julian A1 Agata, Simona A1 Cadoo, Karen A1 Agnarsson, Bjarni A1 Ahearn, Thomas A1 Aittomäki, Kristiina A1 Ambrosone, Christine A1 Andrews, Lesley A1 Culver, Hoda Anton A1 Antonenkova, Natalia A1 Arndt, Volker A1 Aronson, Kristan A1 Arun, Banu A1 Asseryanis, Ella A1 Auber, Bernd A1 Auvinen, Päivi A1 Azzollini, Jacopo A1 Balmaña, Judith A1 Barkardottir, Rosa A1 Barrowdale, Daniel A1 Barwell, Julian A1 Beane Freeman, Laura A1 Beauparlant, Charles A1 Beckmann, Matthias A1 Behrens, Sabine A1 Benitez, Javier A1 Berger, Raanan A1 Bermisheva, Marina A1 Blanco, Amie A1 Blomqvist, Carl A1 Bogdanova, Natalia A1 Bojesen, Anders A1 Bojesen, Stig A1 Bonanni, Bernardo A1 Borg, Ake A1 Brady, Angela A1 Brauch, Hiltrud A1 Brenner, Hermann A1 Brüning, Thomas A1 Burwinkel, Barbara A1 Buys, Saundra A1 Caldés, Trinidad A1 Caliebe, Almuth A1 Caligo, Maria A1 Campa, Daniele A1 Campbell, Ian A1 Canzian, Federico A1 Castelao, Jose A1 Claude, Jenny A1 Chanock, Stephen A1 Claes, Kathleen A1 Clarke, Christine A1 Collavoli, Anita A1 Conner, Thomas A1 Cox, David A1 Cybulski, Cezary A1 Czene, Kamila A1 Daly, Mary A1 de la Hoya, Miguel A1 Devilee, Peter A1 Diez, Orland A1 Ding, Yuan A1 Dite, Gillian A1 Ditsch, Nina A1 Domchek, Susan A1 Dorfling, Cecilia A1 dos Santos Silva, Isabel A1 Durda, Katarzyna A1 Dwek, Miriam A1 Eccles, Diana A1 Ekici, Arif A1 Eliassen, Heather A1 Ellberg, Carolina A1 Eriksson, Mikael A1 Evans, D. Gareth A1 Fasching, Peter A1 Figueroa, Jonine A1 Flyger, Henrik A1 Foulkes, William A1 Friebel, Tara A1 Friedman, Eitan A1 Gabrielson, Marike A1 Gaddam, Pragna A1 Gago Dominguez, Manuela A1 Gao, Chi A1 Gapstur, Susan A1 Garber, Judy A1 García Closas, Montserrat A1 García Sáenz, José Angel A1 Gaudet, Mia A1 Gayther, Simon A1 GEMO Study Collaborators A1 Giles, Graham A1 Glendon, Gord A1 Godwin, Andrew A1 Goldberg, Mark A1 Goldgar, David A1 Guénel, Pascal A1 Gutierrez Barrera, Angelica A1 Haeberle, Lothar A1 Haiman, Christopher A1 Håkansson, Niclas A1 Hall, Per A1 Hamann, Ute A1 Harrington, Patricia A1 Hein, Alexander A1 Heyworth, Jane A1 Hillemanns, Peter A1 Hollestelle, Antoinette A1 Hopper, John A1 Hosgood, Dean A1 Howell, Anthony A1 Hu, Chunling A1 Hulick, Peter A1 Hunter, David A1 Imyanitov, Evgeny A1 Fab, KCon A1 Isaacs, Claudine A1 Jakimovska, Milena A1 Jakubowska, Anna A1 James, Paul A1 Janavicius, Ramunas A1 Janni, Wolfgang A1 John, Esther A1 Jones, Michael A1 Jung, Audrey A1 Kaaks, Rudolf A1 Karlan, Beth A1 Khusnutdinova, Elza A1 Kitahara, Cari A1 Konstantopoulou, Irene A1 Koutros, Stella A1 Kraft, Peter A1 Lambrechts, Diether A1 Lazaro, Conxi A1 Marchand, Loic A1 Lester, Jenny A1 Lesueur, Fabienne A1 Lilyquist, Jenna A1 Loud, Jennifer A1 Lu, Karen A1 Luben, Robert A1 Lubinski, Jan A1 Mannermaa, Arto A1 Manoochehri, Mehdi A1 Manoukian, Siranoush A1 Margolin, Sara A1 Martens, John A1 Maurer, Tabea A1 Mavroudis, Dimitrios A1 Mebirouk, Noura A1 Meindl, Alfons A1 Menon, Usha A1 Miller, Austin A1 Montagna, Marco A1 Nathanson, Katherine A1 Neuhausen, Susan A1 Newman, William A1 Dumont, Tu Nguyen A1 Nielsen, Finn Cilius A1 Nielsen, Sarah A1 Zake, Liene A1 Offit, Kenneth A1 Olah, Edith A1 Olopade, Olufunmilayo A1 Olshan, Andrew A1 Olson, Janet A1 Olsson, Håkan A1 Osorio, Ana A1 Ottini, Laura A1 Peissel, Bernard A1 Peixoto, Ana A1 Peto, Julian A1 Karanfilska, Dijana A1 Pocza, Timea A1 Presneau, Nadege A1 Pujana, Miguel Ángel A1 Punie, Kevin A1 Rack, Brigitte A1 Rantala, Johanna A1 Rashid, Muhammad A1 Murthy, Rohini A1 Rennert, Gad A1 Lejbkowicz, Flavio A1 Rhenius, Valerie A1 Romero, Atocha A1 Rookus, Matti A1 Ross, Eric A1 Rossing, Maria A1 Rudaitis, Vilius A1 Ruebner, Matthias A1 Saloustros, Emmanouil A1 Sanden, Kristin A1 Santamariña, Marta A1 Scheuner, Maren A1 Schmutzler, Rita A1 Schneider, Michael A1 Scott, Christopher A1 Senter, Leigha A1 Shah, Mitul A1 Sharma, Priyanka A1 Shu, Xiao A1 Simard, Jacques A1 Singer, Christian A1 Sohn, Christof A1 Soucy, Penny A1 Southey, Melissa A1 Spinelli, John A1 Steele, Linda A1 Lyonnet, Dominique A1 Tapper, William A1 Teixeira, Manuel A1 Terry, Mary A1 Thomassen, Mads A1 Thompson, Jennifer A1 Thull, Darcy A1 Tischkowitz, Marc A1 Tollenaar, Rob A1 Torres-López, Diana María A1 Troester, Melissa A1 Truong, Thérèse A1 Tung, Nadine A1 Untch, Michael A1 Vachon, Celine A1 van Rensburg, Elizabeth A1 van Veen, Elke A1 Vega, Ana A1 Viel, Alessandra A1 Wappenschmidt, Barbara A1 Weitzel, Jeffrey A1 Wendt, Camilla A1 Wieme, Greet A1 Wolk, Alicja A1 Yang, Xiaohong A1 Zheng, Wei A1 Ziogas, Argyrios A1 Zorn, Kristin A1 Dunning, Alison A1 Lush, Michael A1 Wang, Qin A1 McGuffog, Lesley A1 Parsons, Michael A1 Pharoah, Paul A1 Fostira, Florentia A1 Toland, Amanda A1 Andrulis, Irene A1 Ramus, Susan A1 Swerdlow, Anthony A1 Greene, Mark A1 Chung, Wendy A1 Milne, Roger A1 Trench, Georgia A1 Dörk, Thilo A1 Schmidt, Marjanka A1 Easton, Douglas A1 Radice, Paolo A1 Hahnen, Eric A1 Antoniou, Antonis A1 Couch, Fergus A1 Nevanlinna, Heli A1 Surrallés, Jordi A1 Peterlongo, Paolo A1 KConFab YR 2019-11-01 LK http://hdl.handle.net/10554/47630 AB OL Spanish (121) TY - GEN T1 - The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer AU - Figlioli, Gisella AU - Bogliolo, Massimo AU - Catucci, Irene AU - Caleca, Laura AU - Viz Lasheras, Sandra AU - Caleca, Roser AU - Kiiski, Johanna AU - Muranen, Taru AU - Barnes, Daniel AU - Dennis, Joe AU - Michailidou, Kyriaki AU - Bolla, Manjeet AU - Leslie, Goska AU - Aalfs, Cora AU - ABCTB Investigators AU - Adank, Muriel AU - Adlard, Julian AU - Agata, Simona AU - Cadoo, Karen AU - Agnarsson, Bjarni AU - Ahearn, Thomas AU - Aittomäki, Kristiina AU - Ambrosone, Christine AU - Andrews, Lesley AU - Culver, Hoda Anton AU - Antonenkova, Natalia AU - Arndt, Volker AU - Aronson, Kristan AU - Arun, Banu AU - Asseryanis, Ella AU - Auber, Bernd AU - Auvinen, Päivi AU - Azzollini, Jacopo AU - Balmaña, Judith AU - Barkardottir, Rosa AU - Barrowdale, Daniel AU - Barwell, Julian AU - Beane Freeman, Laura AU - Beauparlant, Charles AU - Beckmann, Matthias AU - Behrens, Sabine AU - Benitez, Javier AU - Berger, Raanan AU - Bermisheva, Marina AU - Blanco, Amie AU - Blomqvist, Carl AU - Bogdanova, Natalia AU - Bojesen, Anders AU - Bojesen, Stig AU - Bonanni, Bernardo AU - Borg, Ake AU - Brady, Angela AU - Brauch, Hiltrud AU - Brenner, Hermann AU - Brüning, Thomas AU - Burwinkel, Barbara AU - Buys, Saundra AU - Caldés, Trinidad AU - Caliebe, Almuth AU - Caligo, Maria AU - Campa, Daniele AU - Campbell, Ian AU - Canzian, Federico AU - Castelao, Jose AU - Claude, Jenny AU - Chanock, Stephen AU - Claes, Kathleen AU - Clarke, Christine AU - Collavoli, Anita AU - Conner, Thomas AU - Cox, David AU - Cybulski, Cezary AU - Czene, Kamila AU - Daly, Mary AU - de la Hoya, Miguel AU - Devilee, Peter AU - Diez, Orland AU - Ding, Yuan AU - Dite, Gillian AU - Ditsch, Nina AU - Domchek, Susan AU - Dorfling, Cecilia AU - dos Santos Silva, Isabel AU - Durda, Katarzyna AU - Dwek, Miriam AU - Eccles, Diana AU - Ekici, Arif AU - Eliassen, Heather AU - Ellberg, Carolina AU - Eriksson, Mikael AU - Evans, D. Gareth AU - Fasching, Peter AU - Figueroa, Jonine AU - Flyger, Henrik AU - Foulkes, William AU - Friebel, Tara AU - Friedman, Eitan AU - Gabrielson, Marike AU - Gaddam, Pragna AU - Gago Dominguez, Manuela AU - Gao, Chi AU - Gapstur, Susan AU - Garber, Judy AU - García Closas, Montserrat AU - García Sáenz, José Angel AU - Gaudet, Mia AU - Gayther, Simon AU - GEMO Study Collaborators AU - Giles, Graham AU - Glendon, Gord AU - Godwin, Andrew AU - Goldberg, Mark AU - Goldgar, David AU - Guénel, Pascal AU - Gutierrez Barrera, Angelica AU - Haeberle, Lothar AU - Haiman, Christopher AU - Håkansson, Niclas AU - Hall, Per AU - Hamann, Ute AU - Harrington, Patricia AU - Hein, Alexander AU - Heyworth, Jane AU - Hillemanns, Peter AU - Hollestelle, Antoinette AU - Hopper, John AU - Hosgood, Dean AU - Howell, Anthony AU - Hu, Chunling AU - Hulick, Peter AU - Hunter, David AU - Imyanitov, Evgeny AU - Fab, KCon AU - Isaacs, Claudine AU - Jakimovska, Milena AU - Jakubowska, Anna AU - James, Paul AU - Janavicius, Ramunas AU - Janni, Wolfgang AU - John, Esther AU - Jones, Michael AU - Jung, Audrey AU - Kaaks, Rudolf AU - Karlan, Beth AU - Khusnutdinova, Elza AU - Kitahara, Cari AU - Konstantopoulou, Irene AU - Koutros, Stella AU - Kraft, Peter AU - Lambrechts, Diether AU - Lazaro, Conxi AU - Marchand, Loic AU - Lester, Jenny AU - Lesueur, Fabienne AU - Lilyquist, Jenna AU - Loud, Jennifer AU - Lu, Karen AU - Luben, Robert AU - Lubinski, Jan AU - Mannermaa, Arto AU - Manoochehri, Mehdi AU - Manoukian, Siranoush AU - Margolin, Sara AU - Martens, John AU - Maurer, Tabea AU - Mavroudis, Dimitrios AU - Mebirouk, Noura AU - Meindl, Alfons AU - Menon, Usha AU - Miller, Austin AU - Montagna, Marco AU - Nathanson, Katherine AU - Neuhausen, Susan AU - Newman, William AU - Dumont, Tu Nguyen AU - Nielsen, Finn Cilius AU - Nielsen, Sarah AU - Zake, Liene AU - Offit, Kenneth AU - Olah, Edith AU - Olopade, Olufunmilayo AU - Olshan, Andrew AU - Olson, Janet AU - Olsson, Håkan AU - Osorio, Ana AU - Ottini, Laura AU - Peissel, Bernard AU - Peixoto, Ana AU - Peto, Julian AU - Karanfilska, Dijana AU - Pocza, Timea AU - Presneau, Nadege AU - Pujana, Miguel Ángel AU - Punie, Kevin AU - Rack, Brigitte AU - Rantala, Johanna AU - Rashid, Muhammad AU - Murthy, Rohini AU - Rennert, Gad AU - Lejbkowicz, Flavio AU - Rhenius, Valerie AU - Romero, Atocha AU - Rookus, Matti AU - Ross, Eric AU - Rossing, Maria AU - Rudaitis, Vilius AU - Ruebner, Matthias AU - Saloustros, Emmanouil AU - Sanden, Kristin AU - Santamariña, Marta AU - Scheuner, Maren AU - Schmutzler, Rita AU - Schneider, Michael AU - Scott, Christopher AU - Senter, Leigha AU - Shah, Mitul AU - Sharma, Priyanka AU - Shu, Xiao AU - Simard, Jacques AU - Singer, Christian AU - Sohn, Christof AU - Soucy, Penny AU - Southey, Melissa AU - Spinelli, John AU - Steele, Linda AU - Lyonnet, Dominique AU - Tapper, William AU - Teixeira, Manuel AU - Terry, Mary AU - Thomassen, Mads AU - Thompson, Jennifer AU - Thull, Darcy AU - Tischkowitz, Marc AU - Tollenaar, Rob AU - Torres-López, Diana María AU - Troester, Melissa AU - Truong, Thérèse AU - Tung, Nadine AU - Untch, Michael AU - Vachon, Celine AU - van Rensburg, Elizabeth AU - van Veen, Elke AU - Vega, Ana AU - Viel, Alessandra AU - Wappenschmidt, Barbara AU - Weitzel, Jeffrey AU - Wendt, Camilla AU - Wieme, Greet AU - Wolk, Alicja AU - Yang, Xiaohong AU - Zheng, Wei AU - Ziogas, Argyrios AU - Zorn, Kristin AU - Dunning, Alison AU - Lush, Michael AU - Wang, Qin AU - McGuffog, Lesley AU - Parsons, Michael AU - Pharoah, Paul AU - Fostira, Florentia AU - Toland, Amanda AU - Andrulis, Irene AU - Ramus, Susan AU - Swerdlow, Anthony AU - Greene, Mark AU - Chung, Wendy AU - Milne, Roger AU - Trench, Georgia AU - Dörk, Thilo AU - Schmidt, Marjanka AU - Easton, Douglas AU - Radice, Paolo AU - Hahnen, Eric AU - Antoniou, Antonis AU - Couch, Fergus AU - Nevanlinna, Heli AU - Surrallés, Jordi AU - Peterlongo, Paolo AU - KConFab Y1 - 2019-11-01 UR - http://hdl.handle.net/10554/47630 AB - ER -

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Abstract

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and pArg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM(-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

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NPJ Breast Cancer; Volumen 5 (2019)

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Except where otherwise noted, this item's license is described as Atribución-NoComercial 4.0 Internacional