FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Human Molecular Genetics

Volumn 24, Issue 18, 2015, Pages 5345-5355

  Peterlongo, Paolo ^a,b   Catucci, Irene ^a,b   Colombo, Mara ^b   Caleca, Laura ^b   Mucaki, Eliseos ^c   Bogliolo, Massimo ^d   Marin, Maria ^d   Damiola, Francesca ^e   Bernard, Loris ^f,g   Pensotti, Valeria ^a,g   Volorio, Sara ^a,g   Dall'Olio, Valentina ^a,g   Meindl, Alfons ^h   Bartram, Claus ⁱ   Sutter, Christian ⁱ   Surowy, Harald ^j,k   Sornin, Valérie ^e   Dondon, Marie Gabrielle ^l,m,n   Eon Marchais, Séverine ^l,m,n   Stoppa Lyonnet, Dominique ^m,o,p   Andrieu, Nadine ^l,m,n   Sinilnikova, Olga M ^e,q   Mitchell, Gillian ^r,s   James, Paul A ^r,s   Thompson, Ella ^r,s   Marchetti, Marina ^t   Verzeroli, Cristina ^r   Tartari, Carmen ^t   Capone, Gabriele Lorenzo ^u,v   Putignano, Anna Laura ^u,v   Genuardi, Maurizio ^u,v,w   Medici, Veronica ^x   Marchi, Isabella ^x   Federico, Massimo ^x   Tognazzo, Silvia ^y   Matricardi, Laura ^y   Agata, Simona ^y   Dolcetti, Riccardo ^z   Puppa, Lara Della ^z   Cini, Giulia ^z   Gismondi, Viviana ^aa   Viassolo, Valeria ^aa   Perfumo, Chiara ^aa   Mencarelli, Maria Antonietta ^ab,ac   Baldassarri, Margherita ^ab,ac   Peissel, Bernard ^b   Roversi, Gaia ^b   Silvestri, Valentina ^ad   Rizzolo, Piera ^ad   Spina, Francesca ^ae   Vivanet, Caterina ^ae   Tibiletti, Maria Grazia ^af   Caligo, Maria Adelaide ^ag   Gambino, Gaetana ^ag   Tommasi, Stefania ^ah   Pilato, Brunella ^ah   Tondini, Carlo ^t   Corna, Chiara ^t   Bonanni, Bernardo ^f   Barile, Monica ^f   Osorio, Ana ^ai,aj   Benitez, Javier ^ai,aj   Balestrino, Luisa ^ae   Ottini, Laura ^ad   Manoukian, Siranoush ^b   Pierotti, Marco A ^b   Renieri, Alessandra ^ab,ac   Varesco, Liliana ^aa   Couch, Fergus J ^ak   Wang, Xianshu ^ak   Devilee, Peter ^al   Hilbers, Florentine S ^al   van Asperen, Christi J ^al   Viel, Alessandra ^z   Montagna, Marco ^y   Cortesi, Laura ^x   Diez, Orland ^d,am,an   Balmaña, Judith ^am,an   Hauke, Jan ^ao   Schmutzler, Rita K ^ao   Papi, Laura ^u   Pujana, Miguel Angel ^ap   Lázaro, Conxi ^ap   Falanga, Anna ^t   Offit, Kenneth ^aq   Vijai, Joseph ^aq   Campbell, Ian ^r,s   Burwinkel, Barbara ^j,k   Kvist, Anders ^ar   Ehrencrona, Hans ^ar   Mazoyer, Sylvie ^e   Pizzamiglio, Sara ^b   Verderio, Paolo ^b   Surralles, Jordi ^d   Rogan, Peter K ^c   Radice, Paolo ^a,b   more..

^a FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c WESTERN UNIVERSITY   (Canada)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e UNIVERSITÉ LYON 1   (France)

^f EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^g Cancer Genetic Test Laboratory ^*  (Italy)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

^j UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^k GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^l INSERM U900   (France)

^m INSTITUT CURIE   (France)

ⁿ PSL RESEARCH UNIVERSITY   (France)

^o INSTITUT CURIE   (France)

^p UNIVERSITÉ PARIS DESCARTES   (France)

^q HOSPICES CIVILS DE LYON   (France)

^r PETER MACCALLUM CANCER CENTRE   (Australia)

^s UNIVERSITY OF MELBOURNE   (Australia)

^t Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

^u UNIVERSITY OF FLORENCE   (Italy)

^v Fiorgen Foundation for Pharmacogenomics   (Italy)

^w CATHOLIC UNIVERSITY   (Italy)

^x UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^y VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^z CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^aa UNIVERSITY OF GENOA   (Italy)

^ab UNIVERSITY OF SIENA   (Italy)

^ac UNIVERSITY HOSPITAL OF SIENA   (Italy)

^ad SAPIENZA UNIVERSITY OF ROME   (Italy)

^ae SC Medical Genetics   (Italy)

^af OSPEDALE DI CIRCOLO   (Italy)

^ag UNIVERSITY HOSPITAL OF PISA   (Italy)

^ah NATIONAL CANCER INSTITUTE GIOVANNI PAOLO II   (Italy)

^ai Structural Biology and Biocomputing Programme   (Spain)

^aj Structural Biology and Biocomputing Programme   (Spain)

^ak MAYO CLINIC   (United States)

^al LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^am HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^an VALL D HEBRON UNIVERSITY HOSPITAL   (Spain)

^ao UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^ap CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^aq MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^ar LUND UNIVERSITY   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FANCONI ANEMIA GROUP CM PROTEIN; FANCONI ANEMIA PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; MESSENGER RNA PRECURSOR; UNCLASSIFIED DRUG; DNA HELICASE; FANCM PROTEIN, HUMAN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN GROUP A B; HNRNP A1; PROTEIN BINDING; STOP CODON;

ADULT; ALLELE; ARTICLE; BINDING SITE; BREAST CANCER; CONTROLLED STUDY; DNA REPAIR; EXON; EXON SKIPPING; FAMILIAL CANCER; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COMPLEMENTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK FACTOR; RNA PROCESSING; RNA SPLICING; ALTERNATIVE RNA SPLICING; BREAST NEOPLASMS; CASE CONTROL STUDY; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS (TOPIC); METABOLISM; MIDDLE AGED; NUCLEOTIDE MOTIF; ONSET AGE; POSITION WEIGHT MATRIX; STOP CODON; YOUNG ADULT;

ADULT; AGE OF ONSET; ALLELES; ALTERNATIVE SPLICING; BINDING SITES; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CODON, NONSENSE; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA REPAIR; EXONS; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; META-ANALYSIS AS TOPIC; MIDDLE AGED; NUCLEOTIDE MOTIFS; POSITION-SPECIFIC SCORING MATRICES; PROTEIN BINDING; RISK FACTORS; YOUNG ADULT;

EID: 84938903924     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv251     Document Type: Article

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