Back to Search Start Over

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

Authors :
Figlioli, Gisella
Bogliolo, Massimo
Catucci, Irene
Caleca, Laura
Viz Lasheras, Sandra
Pujol, Roser
Kiiski, Johanna, I
Muranen, Taru A.
Barnes, Daniel R.
Dennis, Joe
Michailidou, Kyriaki
Bolla, Manjeet K.
Leslie, Goska
Aalfs, Cora M.
Adank, Muriel A.
Adlard, Julian
Agata, Simona
Cadoo, Karen
Agnarsson, Bjarni A.
Ahearn, Thomas
Aittomaki, Kristiina
Ambrosone, Christine B.
Andrews, Lesley
Anton-Culver, Hoda
Antonenkova, Natalia N.
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J.
Arun, Banu K.
Asseryanis, Ella
Auber, Bernd
Auvinen, Paivi
Azzollini, Jacopo
Balmana, Judith
Barkardottir, Rosa B.
Barrowdale, Daniel
Barwell, Julian
Freeman, Laura E. Beane
Beauparlant, Charles Joly
Beckmann, Matthias W.
Behrens, Sabine
Benitez, Javier
Berger, Raanan
Bermisheva, Marina
Blanco, Amie M.
Blomqvist, Carl
Bogdanova, Natalia, V
Bojesen, Anders
Bojesen, Stig E.
Bonanni, Bernardo
Borg, Ake
Brady, Angela F.
Brauch, Hiltrud
Brenner, Hermann
Bruening, Thomas
Burwinkel, Barbara
Buys, Saundra S.
Caldes, Trinidad
Caliebe, Almuth
Caligo, Maria A.
Campa, Daniele
Campbell, Ian G.
Canzian, Federico
Castelao, Jose E.
Chang-Claude, Jenny
Chanock, Stephen J.
Claes, Kathleen B. M.
Clarke, Christine L.
Collavoli, Anita
Conner, Thomas A.
Cox, David G.
Cybulski, Cezary
Czene, Kamila
Daly, Mary B.
de la Hoya, Miguel
Devilee, Peter
Diez, Orland
Ding, Yuan Chun
Dite, Gillian S.
Ditsch, Nina
Domchek, Susan M.
Dorfling, Cecilia M.
dos-Santos-Silva, Isabel
Durda, Katarzyna
Dwek, Miriam
Eccles, Diana M.
Ekici, Arif B.
Eliassen, A. Heather
Ellberg, Carolina
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Foulkes, William D.
Friebel, Tara M.
Friedman, Eitan
Gabrielson, Marike
Gaddam, Pragna
Gago-Dominguez, Manuela
Gao, Chi
Gapstur, Susan M.
Garber, Judy
Garcia-Closas, Montserrat
Garcia-Saenz, Jose A.
Gaudet, Mia M.
Gayther, Simon A.
Giles, Graham G.
Glendon, Gord
Godwin, Andrew K.
Goldberg, Mark S.
Goldgar, David E.
Guenel, Pascal
Gutierrez-Barrera, Angelica M.
Haeberle, Lothar
Haiman, Christopher A.
Hakansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia A.
Hein, Alexander
Heyworth, Jane
Hillemanns, Peter
Hollestelle, Antoinette
Hopper, John L.
Hosgood, H. Dean, III
Howell, Anthony
Hu, Chunling
Hulick, Peter J.
Hunter, David J.
Imyanitov, Evgeny N.
Isaacs, Claudine
Jakimovska, Milena
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Janni, Wolfgang
John, Esther M.
Jones, Michael E.
Jung, Audrey
Kaaks, Rudolf
Karlan, Beth Y.
Khusnutdinova, Elza
Kitahara, Cari M.
Konstantopoulou, Irene
Koutros, Stella
Kraft, Peter
Lambrechts, Diether
Lazaro, Conxi
Le Marchand, Loic
Lester, Jenny
Lesueur, Fabienne
Lilyquist, Jenna
Loud, Jennifer T.
Lu, Karen H.
Luben, Robert N.
Lubinski, Jan
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martens, John W. M.
Maurer, Tabea
Mavroudis, Dimitrios
Mebirouk, Noura
Meindl, Alfons
Menon, Usha
Miller, Austin
Montagna, Marco
Nathanson, Katherine L.
Neuhausen, Susan L.
Newman, William G.
Nguyen-Dumont, Tu
Nielsen, Finn Cilius
Nielsen, Sarah
Nikitina-Zake, Liene
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo, I
Olshan, Andrew F.
Olson, Janet E.
Olsson, Hakan
Osorio, Ana
Ottini, Laura
Peissel, Bernard
Peixoto, Ana
Peto, Julian
Plaseska-Karanfilska, Dijana
Pocza, Timea
Presneau, Nadege
Angel Pujana, Miquel
Punie, Kevin
Rack, Brigitte
Rantala, Johanna
Rashid, Muhammad U.
Rau-Murthy, Rohini
Rennert, Gad
Lejbkowicz, Flavio
Rhenius, Valerie
Romero, Atocha
Rookus, Matti A.
Ross, Eric A.
Rossing, Maria
Rudaitis, Vilius
Ruebner, Matthias
Saloustros, Emmanouil
Sanden, Kristin
Santamarina, Marta
Scheuner, Maren T.
Schmutzler, Rita K.
Schneider, Michael
Scott, Christopher
Senter, Leigha
Shah, Mitul
Sharma, Priyanka
Shu, Xiao-Ou
Simard, Jacques
Singer, Christian F.
Sohn, Christof
Soucy, Penny
Southey, Melissa C.
Spinelli, John J.
Steele, Linda
Stoppa-Lyonnet, Dominique
Tapper, William J.
Teixeira, Manuel R.
Terry, Mary Beth
Thomassen, Mads
Thompson, Jennifer
Thull, Darcy L.
Tischkowitz, Marc
Tollenaar, Rob A. E. M.
Torres, Diana
Troester, Melissa A.
Truong, Therese
Tung, Nadine
Untch, Michael
Vachon, Celine M.
van Rensburg, Elizabeth J.
van Veen, Elke M.
Vega, Ana
Viel, Alessandra
Wappenschmidt, Barbara
Weitzel, Jeffrey N.
Wendt, Camilla
Wieme, Greet
Wolk, Alicja
Yang, Xiaohong R.
Zheng, Wei
Ziogas, Argyrios
Zorn, Kristin K.
Dunning, Alison M.
Lush, Michael
Wang, Qin
McGuffog, Lesley
Parsons, Michael T.
Pharoah, Paul D. P.
Fostira, Florentia
Toland, Amanda E.
Andrulis, Irene L.
Ramus, Susan J.
Swerdlow, Anthony J.
Greene, Mark H.
Chung, Wendy K.
Milne, Roger L.
Chenevix-Trench, Georgia
Doerk, Thilo
Schmidt, Marjanka K.
Easton, Douglas F.
Radice, Paolo
Hahnen, Eric
Antoniou, Antonis C.
Couch, Fergus J.
Nevanlinna, Heli
Surralles, Jordi
Peterlongo, Paolo
Balleine, Rosemary
Baxter, Robert
Braye, Stephen
Carpenter, Jane
Dahlstrom, Jane
Forbes, John
Lee, C. Soon
Marsh, Deborah
Morey, Adrienne
Pathmanathan, Nirmala
Scott, Rodney
Simpson, Peter
Spigelman, Allan
Wilcken, Nicholas
Yip, Desmond
Zeps, Nikolajs
Belotti, Muriel
Bertrand, Ophelie
Birot, Anne-Marie
Buecher, Bruno
Caputo, Sandrine
Dupre, Anais
Fourme, Emmanuelle
Gauthier-Villars, Marion
Golmard, Lisa
Le Mentec, Marine
Moncoutier, Virginie
de Pauw, Antoine
Saule, Claire
Boutry-Kryza, Nadia
Calender, Alain
Giraud, Sophie
Leone, Mlanie
Bressac-de-Paillerets, Brigitte
Caron, Olivier
Guillaud-Bataille, Marine
Bignon, Yves-Jean
Uhrhammer, Nancy
Bonadona, Valerie
Lasset, Christine
Berthet, Pascaline
Castera, Laurent
Vaur, Dominique
Bourdon, Violaine
Nogues, Catherine
Noguchi, Tetsuro
Popovici, Cornel
Remenieras, Audrey
Sobol, Hagay
Coupier, Isabelle
Pujol, Pascal
Adenis, Claude
Dumont, Aurelie
Revillion, Francoise
Muller, Daniele
Barouk-Simonet, Emmanuelle
Bonnet, Francoise
Bubien, Virginie
Longy, Michel
Sevenet, Nicolas
Gladieff, Laurence
Guimbaud, Rosine
Feillel, Viviane
Toulas, Christine
Dreyfus, Helene
Leroux, Christine Dominique
Peysselon, Magalie
Rebischung, Christine
Legrand, Clementine
Baurand, Amandine
Bertolone, Geoffrey
Coron, Fanny
Faivre, Laurence
Jacquot, Caroline
Lizard, Sarab
Kientz, Caroline
Lebrun, Marine
Prieur, Fabienne
Fert-Ferrer, Sandra
Mari, Vronique
Venat-Bouvet, Laurence
Bezieau, Stephane
Delnatte, Capucine
Mortemousque, Isabelle
Colas, Chrystelle
Coulet, Florence
Soubrier, Florent
Warcoin, Mathilde
Bronner, Myriam
Sokolowska, Johanna
Collonge-Rame, Marie-Agnes
Damette, Alexandre
Gesta, Paul
Lallaoui, Hakima
Chiesa, Jean
Molina-Gomes, Denise
Ingster, Olivier
Manouvrier-Hanu, Sylvie
Lejeune, Sophie
Aghmesheh, Morteza
Greening, Sian
Amor, David
Gattas, Mike
Botes, Leon
Buckley, Michael
Friedlander, Michael
Koehler, Jessica
Meiser, Bettina
Saleh, Mona
Salisbury, Elizabeth
Trainer, Alison
Tucker, Kathy
Antill, Yoland
Dobrovic, Alexander
Fellows, Andrew
Fox, Stephen
Harris, Marion
Nightingale, Sophie
Phillips, Kelly
Sambrook, Joe
Thorne, Heather
Armitage, Shane
Arnold, Leanne
Kefford, Rick
Kirk, Judy
Rickard, Edwina
Bastick, Patti
Beesley, Jonathan
Hayward, Nick
Spurdle, Amanda
Walker, Logan
Beilby, John
Saunders, Christobel
Bennett, Ian
Blackburn, Anneke
Bogwitz, Michael
Gaff, Clara
Lindeman, Geoff
Pachter, Nick
Scott, Clare
Sexton, Adrienne
Visvader, Jane
Taylor, Jessica
Winship, Ingrid
Brennan, Meagan
Brown, Melissa
French, Juliet
Edwards, Stacey
Burgess, Matthew
Burke, Jo
Patterson, Briony
Butow, Phyllis
Culling, Bronwyn
Caldon, Liz
Callen, David
Chauhan, Deepa
Eisenbruch, Maurice
Heiniger, Louise
Chauhan, Manisha
Christian, Alice
Dixon, Joanne
Kidd, Alexa
Cohen, Paul
Colley, Alison
Fenton, Georgina
Crook, Ashley
Dickson, Rebecca
Field, Michael
Cui, James
Cummings, Margaret
Dawson, Sarah-Jane
DeFazio, Anna
Delatycki, Martin
Dudding, Tracy
Edkins, Ted
Farshid, Gelareh
Flanagan, James
Fong, Peter
Forrest, Laura
Gallego-Ortega, David
George, Peter
Gill, Grantley
Kollias, James
Haan, Eric
Hart, Stewart
Jenkins, Mark
Hunt, Clare
Lakhani, Sunil
Lipton, Lara
Lobb, Liz
Mann, Graham
McLachlan, Sue Anne
O'Connell, Shona
O'Sullivan, Sarah
Pieper, Ellen
Robinson, Bridget
Saunus, Jodi
Scott, Elizabeth
Shelling, Andrew
Williams, Rachael
Young, Mary Ann
Figlioli, Gisella
Bogliolo, Massimo
Catucci, Irene
Caleca, Laura
Viz Lasheras, Sandra
Pujol, Roser
Kiiski, Johanna, I
Muranen, Taru A.
Barnes, Daniel R.
Dennis, Joe
Michailidou, Kyriaki
Bolla, Manjeet K.
Leslie, Goska
Aalfs, Cora M.
Adank, Muriel A.
Adlard, Julian
Agata, Simona
Cadoo, Karen
Agnarsson, Bjarni A.
Ahearn, Thomas
Aittomaki, Kristiina
Ambrosone, Christine B.
Andrews, Lesley
Anton-Culver, Hoda
Antonenkova, Natalia N.
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J.
Arun, Banu K.
Asseryanis, Ella
Auber, Bernd
Auvinen, Paivi
Azzollini, Jacopo
Balmana, Judith
Barkardottir, Rosa B.
Barrowdale, Daniel
Barwell, Julian
Freeman, Laura E. Beane
Beauparlant, Charles Joly
Beckmann, Matthias W.
Behrens, Sabine
Benitez, Javier
Berger, Raanan
Bermisheva, Marina
Blanco, Amie M.
Blomqvist, Carl
Bogdanova, Natalia, V
Bojesen, Anders
Bojesen, Stig E.
Bonanni, Bernardo
Borg, Ake
Brady, Angela F.
Brauch, Hiltrud
Brenner, Hermann
Bruening, Thomas
Burwinkel, Barbara
Buys, Saundra S.
Caldes, Trinidad
Caliebe, Almuth
Caligo, Maria A.
Campa, Daniele
Campbell, Ian G.
Canzian, Federico
Castelao, Jose E.
Chang-Claude, Jenny
Chanock, Stephen J.
Claes, Kathleen B. M.
Clarke, Christine L.
Collavoli, Anita
Conner, Thomas A.
Cox, David G.
Cybulski, Cezary
Czene, Kamila
Daly, Mary B.
de la Hoya, Miguel
Devilee, Peter
Diez, Orland
Ding, Yuan Chun
Dite, Gillian S.
Ditsch, Nina
Domchek, Susan M.
Dorfling, Cecilia M.
dos-Santos-Silva, Isabel
Durda, Katarzyna
Dwek, Miriam
Eccles, Diana M.
Ekici, Arif B.
Eliassen, A. Heather
Ellberg, Carolina
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Foulkes, William D.
Friebel, Tara M.
Friedman, Eitan
Gabrielson, Marike
Gaddam, Pragna
Gago-Dominguez, Manuela
Gao, Chi
Gapstur, Susan M.
Garber, Judy
Garcia-Closas, Montserrat
Garcia-Saenz, Jose A.
Gaudet, Mia M.
Gayther, Simon A.
Giles, Graham G.
Glendon, Gord
Godwin, Andrew K.
Goldberg, Mark S.
Goldgar, David E.
Guenel, Pascal
Gutierrez-Barrera, Angelica M.
Haeberle, Lothar
Haiman, Christopher A.
Hakansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia A.
Hein, Alexander
Heyworth, Jane
Hillemanns, Peter
Hollestelle, Antoinette
Hopper, John L.
Hosgood, H. Dean, III
Howell, Anthony
Hu, Chunling
Hulick, Peter J.
Hunter, David J.
Imyanitov, Evgeny N.
Isaacs, Claudine
Jakimovska, Milena
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Janni, Wolfgang
John, Esther M.
Jones, Michael E.
Jung, Audrey
Kaaks, Rudolf
Karlan, Beth Y.
Khusnutdinova, Elza
Kitahara, Cari M.
Konstantopoulou, Irene
Koutros, Stella
Kraft, Peter
Lambrechts, Diether
Lazaro, Conxi
Le Marchand, Loic
Lester, Jenny
Lesueur, Fabienne
Lilyquist, Jenna
Loud, Jennifer T.
Lu, Karen H.
Luben, Robert N.
Lubinski, Jan
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martens, John W. M.
Maurer, Tabea
Mavroudis, Dimitrios
Mebirouk, Noura
Meindl, Alfons
Menon, Usha
Miller, Austin
Montagna, Marco
Nathanson, Katherine L.
Neuhausen, Susan L.
Newman, William G.
Nguyen-Dumont, Tu
Nielsen, Finn Cilius
Nielsen, Sarah
Nikitina-Zake, Liene
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo, I
Olshan, Andrew F.
Olson, Janet E.
Olsson, Hakan
Osorio, Ana
Ottini, Laura
Peissel, Bernard
Peixoto, Ana
Peto, Julian
Plaseska-Karanfilska, Dijana
Pocza, Timea
Presneau, Nadege
Angel Pujana, Miquel
Punie, Kevin
Rack, Brigitte
Rantala, Johanna
Rashid, Muhammad U.
Rau-Murthy, Rohini
Rennert, Gad
Lejbkowicz, Flavio
Rhenius, Valerie
Romero, Atocha
Rookus, Matti A.
Ross, Eric A.
Rossing, Maria
Rudaitis, Vilius
Ruebner, Matthias
Saloustros, Emmanouil
Sanden, Kristin
Santamarina, Marta
Scheuner, Maren T.
Schmutzler, Rita K.
Schneider, Michael
Scott, Christopher
Senter, Leigha
Shah, Mitul
Sharma, Priyanka
Shu, Xiao-Ou
Simard, Jacques
Singer, Christian F.
Sohn, Christof
Soucy, Penny
Southey, Melissa C.
Spinelli, John J.
Steele, Linda
Stoppa-Lyonnet, Dominique
Tapper, William J.
Teixeira, Manuel R.
Terry, Mary Beth
Thomassen, Mads
Thompson, Jennifer
Thull, Darcy L.
Tischkowitz, Marc
Tollenaar, Rob A. E. M.
Torres, Diana
Troester, Melissa A.
Truong, Therese
Tung, Nadine
Untch, Michael
Vachon, Celine M.
van Rensburg, Elizabeth J.
van Veen, Elke M.
Vega, Ana
Viel, Alessandra
Wappenschmidt, Barbara
Weitzel, Jeffrey N.
Wendt, Camilla
Wieme, Greet
Wolk, Alicja
Yang, Xiaohong R.
Zheng, Wei
Ziogas, Argyrios
Zorn, Kristin K.
Dunning, Alison M.
Lush, Michael
Wang, Qin
McGuffog, Lesley
Parsons, Michael T.
Pharoah, Paul D. P.
Fostira, Florentia
Toland, Amanda E.
Andrulis, Irene L.
Ramus, Susan J.
Swerdlow, Anthony J.
Greene, Mark H.
Chung, Wendy K.
Milne, Roger L.
Chenevix-Trench, Georgia
Doerk, Thilo
Schmidt, Marjanka K.
Easton, Douglas F.
Radice, Paolo
Hahnen, Eric
Antoniou, Antonis C.
Couch, Fergus J.
Nevanlinna, Heli
Surralles, Jordi
Peterlongo, Paolo
Balleine, Rosemary
Baxter, Robert
Braye, Stephen
Carpenter, Jane
Dahlstrom, Jane
Forbes, John
Lee, C. Soon
Marsh, Deborah
Morey, Adrienne
Pathmanathan, Nirmala
Scott, Rodney
Simpson, Peter
Spigelman, Allan
Wilcken, Nicholas
Yip, Desmond
Zeps, Nikolajs
Belotti, Muriel
Bertrand, Ophelie
Birot, Anne-Marie
Buecher, Bruno
Caputo, Sandrine
Dupre, Anais
Fourme, Emmanuelle
Gauthier-Villars, Marion
Golmard, Lisa
Le Mentec, Marine
Moncoutier, Virginie
de Pauw, Antoine
Saule, Claire
Boutry-Kryza, Nadia
Calender, Alain
Giraud, Sophie
Leone, Mlanie
Bressac-de-Paillerets, Brigitte
Caron, Olivier
Guillaud-Bataille, Marine
Bignon, Yves-Jean
Uhrhammer, Nancy
Bonadona, Valerie
Lasset, Christine
Berthet, Pascaline
Castera, Laurent
Vaur, Dominique
Bourdon, Violaine
Nogues, Catherine
Noguchi, Tetsuro
Popovici, Cornel
Remenieras, Audrey
Sobol, Hagay
Coupier, Isabelle
Pujol, Pascal
Adenis, Claude
Dumont, Aurelie
Revillion, Francoise
Muller, Daniele
Barouk-Simonet, Emmanuelle
Bonnet, Francoise
Bubien, Virginie
Longy, Michel
Sevenet, Nicolas
Gladieff, Laurence
Guimbaud, Rosine
Feillel, Viviane
Toulas, Christine
Dreyfus, Helene
Leroux, Christine Dominique
Peysselon, Magalie
Rebischung, Christine
Legrand, Clementine
Baurand, Amandine
Bertolone, Geoffrey
Coron, Fanny
Faivre, Laurence
Jacquot, Caroline
Lizard, Sarab
Kientz, Caroline
Lebrun, Marine
Prieur, Fabienne
Fert-Ferrer, Sandra
Mari, Vronique
Venat-Bouvet, Laurence
Bezieau, Stephane
Delnatte, Capucine
Mortemousque, Isabelle
Colas, Chrystelle
Coulet, Florence
Soubrier, Florent
Warcoin, Mathilde
Bronner, Myriam
Sokolowska, Johanna
Collonge-Rame, Marie-Agnes
Damette, Alexandre
Gesta, Paul
Lallaoui, Hakima
Chiesa, Jean
Molina-Gomes, Denise
Ingster, Olivier
Manouvrier-Hanu, Sylvie
Lejeune, Sophie
Aghmesheh, Morteza
Greening, Sian
Amor, David
Gattas, Mike
Botes, Leon
Buckley, Michael
Friedlander, Michael
Koehler, Jessica
Meiser, Bettina
Saleh, Mona
Salisbury, Elizabeth
Trainer, Alison
Tucker, Kathy
Antill, Yoland
Dobrovic, Alexander
Fellows, Andrew
Fox, Stephen
Harris, Marion
Nightingale, Sophie
Phillips, Kelly
Sambrook, Joe
Thorne, Heather
Armitage, Shane
Arnold, Leanne
Kefford, Rick
Kirk, Judy
Rickard, Edwina
Bastick, Patti
Beesley, Jonathan
Hayward, Nick
Spurdle, Amanda
Walker, Logan
Beilby, John
Saunders, Christobel
Bennett, Ian
Blackburn, Anneke
Bogwitz, Michael
Gaff, Clara
Lindeman, Geoff
Pachter, Nick
Scott, Clare
Sexton, Adrienne
Visvader, Jane
Taylor, Jessica
Winship, Ingrid
Brennan, Meagan
Brown, Melissa
French, Juliet
Edwards, Stacey
Burgess, Matthew
Burke, Jo
Patterson, Briony
Butow, Phyllis
Culling, Bronwyn
Caldon, Liz
Callen, David
Chauhan, Deepa
Eisenbruch, Maurice
Heiniger, Louise
Chauhan, Manisha
Christian, Alice
Dixon, Joanne
Kidd, Alexa
Cohen, Paul
Colley, Alison
Fenton, Georgina
Crook, Ashley
Dickson, Rebecca
Field, Michael
Cui, James
Cummings, Margaret
Dawson, Sarah-Jane
DeFazio, Anna
Delatycki, Martin
Dudding, Tracy
Edkins, Ted
Farshid, Gelareh
Flanagan, James
Fong, Peter
Forrest, Laura
Gallego-Ortega, David
George, Peter
Gill, Grantley
Kollias, James
Haan, Eric
Hart, Stewart
Jenkins, Mark
Hunt, Clare
Lakhani, Sunil
Lipton, Lara
Lobb, Liz
Mann, Graham
McLachlan, Sue Anne
O'Connell, Shona
O'Sullivan, Sarah
Pieper, Ellen
Robinson, Bridget
Saunus, Jodi
Scott, Elizabeth
Shelling, Andrew
Williams, Rachael
Young, Mary Ann
Publication Year :
2019

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.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1201313615
Document Type :
Electronic Resource