换一批FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
作者：
Peterlongo, Paolo [1]
;
Catucci, Irene [2]
;
Colombo, Mara [3]
;
Caleca, Laura [4]
;
Mucaki, Eliseos [5]
;
Bogliolo, Massimo [6]
;
Marin, Maria [7]
;
Damiola, Francesca [8]
;
Bernard, Loris [9]
;
Pensotti, Valeria [10]
;
Volorio, Sara [11]
;
Dall'Olio, Valentina [12]
;
Meindl, Alfons [13]
;
Bartram, Claus [14]
;
Sutter, Christian [15]
;
Surowy, Harald [16]
;
Sornin, Valerie [17]
;
Dondon, Marie-Gabrielle [18]
;
Eon-Marchais, Severine [19]
;
Stoppa-Lyonnet, Dominique [20]
;
Andrieu, Nadine [21]
;
Sinilnikova, Olga M. [22]
;
Mitchell, Gillian [23]
;
James, Paul A. [24]
;
Thompson, Ella [25]
;
Marchetti, Marina [26]
;
Verzeroli, Cristina [27]
;
Tartari, Carmen [28]
;
Capone, Gabriele Lorenzo [29]
;
Putignano, Anna Laura [30]
;
Genuardi, Maurizio [31]
;
Medici, Veronica [32]
;
Marchi, Isabella [33]
;
Federico, Massimo [34]
;
Tognazzo, Silvia [35]
;
Matricardi, Laura [36]
;
Agata, Simona [37]
;
Dolcetti, Riccardo [38]
;
Della Puppa, Lara [39]
;
Cini, Giulia [40]
;
Gismondi, Viviana [41]
;
Viassolo, Valeria [42]
;
Perfumo, Chiara [43]
;
Mencarelli, Maria Antonietta ;
Baldassarri, Margherita ;
Peissel, Bernard ;
Roversi, Gaia ;
Silvestri, Valentina ;
Rizzolo, Piera ;
Spina, Francesca ;
Vivanet, Caterina ;
Tibiletti, Maria Grazia ;
Caligo, Maria Adelaide ;
Gambino, Gaetana ;
Tommasi, Stefania ;
Pilato, Brunella ;
Tondini, Carlo ;
Corna, Chiara ;
Bonanni, Bernardo ;
Barile, Monica ;
Osorio, Ana ;
Benitez, Javier ;
Balestrino, Luisa ;
Ottini, Laura ;
Manoukian, Siranoush ;
Pierotti, Marco A. ;
Renieri, Alessandra ;
Varesco, Liliana ;
Couch, Fergus J. ;
Wang, Xianshu ;
Devilee, Peter ;
Hilbers, Florentine S. ;
van Asperen, Christi J. ;
Viel, Alessandra ;
Montagna, Marco ;
Cortesi, Laura ;
Diez, Orland ;
Balmana, Judith ;
Hauke, Jan ;
Schmutzler, Rita K. ;
Papi, Laura ;
Angel Pujana, Miguel ;
Lazaro, Conxi ;
Falanga, Anna ;
Offit, Kenneth ;
Vijai, Joseph ;
Campbell, Ian ;
Burwinkel, Barbara ;
Kvist, Anders ;
Ehrencrona, Hans ;
Mazoyer, Sylvie ;
Pizzamiglio, Sara ;
Verderio, Paolo ;
Surralles, Jordi ;
Rogan, Peter K. ;
Radice, Paolo
作者单位：
Heidelberg Univ, Inst Human Genet, Heidelberg, Germany
[1]
IRCCS Ist Tumori Giovanni Paolo II, Mol Genet Lab, Bari, Italy
[2]
Univ Hosp, Sect Genet Oncol, Pisa, Italy
[3]
Univ Siena, Med Genet, I-53100 Siena, Italy
[4]
Mem Sloan Kettering Canc Ctr, Clin Genet Serv, New York, NY 10021 USA
[5]
VHIO, Barcelona, Spain
[6]
Dept Expt Oncol, Milan, Italy
[7]
Univ Hosp, Ctr Familial Breast & Ovarian Canc, Cologne, Germany
[8]
IRCCS AOU San Martino IST, Unit Hereditary Canc, Genoa, Italy
[9]
CRO Aviano Natl Canc Inst, Canc Bioimmunotherapy Unit, Aviano, PN, Italy
[10]
Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Madrid, Spain
[11]
Div Canc Prevent & Genet, Ist Europeo Oncol, Milan, Italy
[12]
Univ Western Ontario, Dept Biochem, Schulich Sch Med & Dent, London, ON, Canada
[13]
Osped Circolo Varese, Unit Pathol, Varese, Italy
[14]
Univ Lyon 1, Ctr Leon Berard, CNRS, Canc Res Ctr Lyon,UMR5286,INSERM U1052, F-69365 Lyon, France
[15]
ASl8 Cagliari, SC Med Genet, Cagliari, Italy
[16]
Hosp Univ Vall Hebron, Oncogenet Grp, Barcelona, Spain
[17]
Peter MacCallum Canc Ctr, Kathleen Cunningham Fdn Consortium Res Familial B, East Melbourne, Vic
[18]
Lund Univ, Dept Clin Genet, Off Med Serv, Lab Med, Lund, Sweden
[19]
IFOM, FIRC Inst Mol Oncol, I-20139 Milan, Italy
[20]
IRCCS, Ist Oncol Veneto IOV, Immunol & Mol Oncol Unit, Padua, Italy
[21]
Univ Florence, Dipartimento Sci Biomed Sperimentali & Clin, Florence, Italy
[22]
Tech Univ Munich, Div Gynaecol & Obstet, D-80290 Munich, Germany
[23]
Familial Canc Ctr, East Melbourne, Vic, Australia
[24]
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
[25]
Univ Modena & Reggio Emilia, Dipartimento Oncol Ematol & Malattie Apparato Res, Modena, Italy
[26]
Fdn IRCCS Ist Nazl Tumori, Unit Mol Bases Genet Risk & Genet Testing, Dept Prevent & Predict Med
[27]
Univ Roma La Sapienza, Dept Mol Med, I-00185 Rome, Italy
[28]
Canc Genet Lab, East Melbourne, Vic, Australia
[29]
Leiden Univ, Dept Human Genet, Med Ctr, NL-2300 RA Leiden, Netherlands
[30]
IDIBELL, Catalan Inst Oncol, Barcelona, Spain
[31]
Fdn IRCCS Ist Nazl Tumori, Sci Directorate, Milan, Italy
[32]
Fdn IRCCS Ist Nazl Tumori, Unit Med Genet, Dept Prevent & Predict Med, Milan, Italy
[33]
INSERM, U900, Paris, France
[34]
Inst Curie, Serv Genet Oncol, Paris, France
[35]
Fdn IRCCS Ist Nazl Tumori, Unit Med Stat Biometry & Bioinformat, Milan, Italy
[36]
Univ Heidelberg Hosp, Dept Obstet & Gynecol, Mol Biol Breast Canc, Heidelberg, Germany
[37]
Lund Univ, Div Oncol, Dept Clin Sci, Lund, Sweden
[38]
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
[39]
CRO Aviano Natl Canc Inst, Unit Expt Oncol 1, Aviano, PN, Italy
[40]
Azienda Osped Papa Giovanni XXIII, Med Oncol Unit, Bergamo, Italy
[41]
Azienda Osped Papa Giovanni XXIII, Dept Immunohematol & Transfus Med, Bergamo, Italy
[42]
Univ Autonoma Barcelona, Dept Genet & Microbiol, Genome Instabil & DNA Repair Grp, E-08193
[43]
发布时间
2017-04-05
- 浏览2
Human Molecular Genetics
Human Molecular Genetics
5345-5355页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
