BRCA2 c.5238del ;(p.N1747Tfs*30)

Variant ID: 13-32913730-CT-C

NM_000059.3(BRCA2):c.5238del;(p.N1747Tfs*30)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Human Mutation
Rebbeck, Timothy R TR; Friebel, Tara M TM; Friedman, Eitan E; Hamann, Ute U; Huo, Dezheng D; Kwong, Ava A; Olah, Edith E; Olopade, Olufunmilayo I OI; Solano, Angela R AR; Teo, Soo-Hwang SH; Thomassen, Mads M; Weitzel, Jeffrey N JN; Chan, T L TL; Couch, Fergus J FJ; Goldgar, David E DE; Kruse, Torben A TA; Palmero, Edenir Inêz EI; Park, Sue Kyung SK; Torres, Diana D; van Rensburg, Elizabeth J EJ; McGuffog, Lesley L; Parsons, Michael T MT; Leslie, Goska G; Aalfs, Cora M CM; Abugattas, Julio J; Adlard, Julian J; Agata, Simona S; Aittomäki, Kristiina K; Andrews, Lesley L; Andrulis, Irene L IL; Arason, Adalgeir A; Arnold, Norbert N; Arun, Banu K BK; Asseryanis, Ella E; Auerbach, Leo L; Azzollini, Jacopo J; Balmaña, Judith J; Barile, Monica M; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Benitez, Javier J; Berger, Andreas A; Berger, Raanan R; Blanco, Amie M AM; Blazer, Kathleen R KR; Blok, Marinus J MJ; Bonadona, Valérie V; Bonanni, Bernardo B; Bradbury, Angela R AR; Brewer, Carole C; Buecher, Bruno B; Buys, Saundra S SS; Caldes, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KBM; Collée, J Margriet JM; Cook, Jackie J; Davidson, Rosemarie R; de la Hoya, Miguel M; De Leeneer, Kim K; de Pauw, Antoine A; Delnatte, Capucine C; Diez, Orland O; Ding, Yuan Chun YC; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Velazquez, Carolina C; Dworniczak, Bernd B; Eason, Jacqueline J; Easton, Douglas F DF; Eeles, Ros R; Ehrencrona, Hans H; Ejlertsen, Bent B; , ; Engel, Christoph C; Engert, Stefanie S; Evans, D Gareth DG; Faivre, Laurence L; Feliubadaló, Lidia L; Ferrer, Sandra Fert SF; Foretova, Lenka L; Fowler, Jeffrey J; Frost, Debra D; Galvão, Henrique C R HCR; Ganz, Patricia A PA; Garber, Judy J; Gauthier-Villars, Marion M; Gehrig, Andrea A; , ; Gerdes, Anne-Marie AM; Gesta, Paul P; Giannini, Giuseppe G; Giraud, Sophie S; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Gutierrez-Barrera, Angelica A; Hahnen, Eric E; Hauke, Jan J; , ; Henderson, Alex A; Hentschel, Julia J; Hogervorst, Frans B L FBL; Honisch, Ellen E; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jensen, Uffe Birk UB; John, Esther M EM; Vijai, Joseph J; Kaczmarek, Katarzyna K; Karlan, Beth Y BY; Kast, Karin K; Investigators, KConFab K; Kim, Sung-Won SW; Konstantopoulou, Irene I; Korach, Jacob J; Laitman, Yael Y; Lasa, Adriana A; Lasset, Christine C; Lázaro, Conxi C; Lee, Annette A; Lee, Min Hyuk MH; Lester, Jenny J; Lesueur, Fabienne F; Liljegren, Annelie A; Lindor, Noralane M NM; Longy, Michel M; Loud, Jennifer T JT; Lu, Karen H KH; Lubinski, Jan J; Machackova, Eva E; Manoukian, Siranoush S; Mari, Véronique V; Martínez-Bouzas, Cristina C; Matrai, Zoltan Z; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Mensenkamp, Arjen R AR; Mickys, Ugnius U; Miller, Austin A; Montagna, Marco M; Moysich, Kirsten B KB; Mulligan, Anna Marie AM; Musinsky, Jacob J; Neuhausen, Susan L SL; Nevanlinna, Heli H; Ngeow, Joanne J; Nguyen, Huu Phuc HP; Niederacher, Dieter D; Nielsen, Henriette Roed HR; Nielsen, Finn Cilius FC; Nussbaum, Robert L RL; Offit, Kenneth K; Öfverholm, Anna A; Ong, Kai-Ren KR; Osorio, Ana A; Papi, Laura L; Papp, Janos J; Pasini, Barbara B; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Peruga, Nina N; Peterlongo, Paolo P; Pohl, Esther E; Pradhan, Nisha N; Prajzendanc, Karolina K; Prieur, Fabienne F; Pujol, Pascal P; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rashid, Muhammad Usman MU; Rhiem, Kerstin K; Robson, Mark M; Rodriguez, Gustavo C GC; Rogers, Mark T MT; Rudaitis, Vilius V; Schmidt, Ane Y AY; Schmutzler, Rita Katharina RK; Senter, Leigha L; Shah, Payal D PD; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Skytte, Anne-Bine AB; Slavin, Thomas P TP; Snape, Katie K; Sobol, Hagay H; Southey, Melissa M; Steele, Linda L; Steinemann, Doris D; Sukiennicki, Grzegorz G; Sutter, Christian C; Szabo, Csilla I CI; Tan, Yen Y YY; Teixeira, Manuel R MR; Terry, Mary Beth MB; Teulé, Alex A; Thomas, Abigail A; Thull, Darcy L DL; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Topka, Sabine S; Trainer, Alison H AH; Tung, Nadine N; van Asperen, Christi J CJ; van der Hout, Annemieke H AH; van der Kolk, Lizet E LE; van der Luijt, Rob B RB; Van Heetvelde, Mattias M; Varesco, Liliana L; Varon-Mateeva, Raymonda R; Vega, Ana A; Villarreal-Garza, Cynthia C; von Wachenfeldt, Anna A; Walker, Lisa L; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weber, Bernhard H F BHF; Yannoukakos, Drakoulis D; Yoon, Sook-Yee SY; Zanzottera, Cristina C; Zidan, Jamal J; Zorn, Kristin K KK; Hutten Selkirk, Christina G CG; Hulick, Peter J PJ; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Nathanson, Katherine L KL
Publication Date: 2018-05

Variant appearance in text: BRCA2: 5238del
PubMed Link: 29446198
Variant Present in the following documents:
  • Main text
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