PALB2 c.1343G>T ;(p.S448I)

Variant ID: 16-23646524-C-A

NM_024675.3(PALB2):c.1343G>T;(p.S448I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Journal Of Medical Genetics
Southey, Melissa C MC; Goldgar, David E DE; Winqvist, Robert R; Pylkäs, Katri K; Couch, Fergus F; Tischkowitz, Marc M; Foulkes, William D WD; Dennis, Joe J; Michailidou, Kyriaki K; van Rensburg, Elizabeth J EJ; Heikkinen, Tuomas T; Nevanlinna, Heli H; Hopper, John L JL; Dörk, Thilo T; Claes, Kathleen Bm KB; Reis-Filho, Jorge J; Teo, Zhi Ling ZL; Radice, Paolo P; Catucci, Irene I; Peterlongo, Paolo P; Tsimiklis, Helen H; Odefrey, Fabrice A FA; Dowty, James G JG; Schmidt, Marjanka K MK; Broeks, Annegien A; Hogervorst, Frans B FB; Verhoef, Senno S; Carpenter, Jane J; Clarke, Christine C; Scott, Rodney J RJ; Fasching, Peter A PA; Haeberle, Lothar L; Ekici, Arif B AB; Beckmann, Matthias W MW; Peto, Julian J; Dos-Santos-Silva, Isabel I; Fletcher, Olivia O; Johnson, Nichola N; Bolla, Manjeet K MK; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Marme, Federik F; Burwinkel, Barbara B; Yang, Rongxi R; Guénel, Pascal P; Truong, Thérèse T; Menegaux, Florence F; Sanchez, Marie M; Bojesen, Stig S; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan S; Ziogas, Argyrios A; Clarke, Christina A CA; Brenner, Hermann H; Arndt, Volker V; Stegmaier, Christa C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Spurdle, Amanda B AB; Investigators, kConFab K; , ; Wauters, Els E; Smeets, Dominiek D; Beuselinck, Benoit B; Floris, Giuseppe G; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Olson, Janet E JE; Vachon, Celine C; Pankratz, Vernon S VS; McLean, Catriona C; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Zheng, Wei W; Hunter, David J DJ; Lindstrom, Sara S; Hankinson, Susan E SE; Kraft, Peter P; Andrulis, Irene I; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kauppila, Saila S; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Hollestelle, Antoinette A; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Eccles, Diana M DM; Rafiq, Sajjad S; Tapper, William J WJ; Gerty, Sue M SM; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Tilanus-Linthorst, Madeleine M; Hall, Per P; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Cox, Angela A; Reed, Malcolm W R MW; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Hamann, Ute U; Torres, Diana D; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Simard, Jacques J; Dumont, Martine M; Soucy, Penny P; Eeles, Rosalind R; Muir, Kenneth K; Wiklund, Fredrik F; Gronberg, Henrik H; Schleutker, Johanna J; Nordestgaard, Børge G BG; Weischer, Maren M; Travis, Ruth C RC; Neal, David D; Donovan, Jenny L JL; Hamdy, Freddie C FC; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Schaid, Daniel J DJ; Kelley, Joseph L JL; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Butterbach, Katja K; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Kote-Jarai, Zsofia Z; Olama, Ali Amin Al AA; Benlloch, Sara S; Renner, Stefan P SP; Hartmann, Arndt A; Hein, Alexander A; Ruebner, Matthias M; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambretchs, Sandrina S; Doherty, Jennifer A JA; Rossing, Mary Anne MA; Nickels, Stefan S; Eilber, Ursula U; Wang-Gohrke, Shan S; Odunsi, Kunle K; Sucheston-Campbell, Lara E LE; Friel, Grace G; Lurie, Galina G; Killeen, Jeffrey L JL; Wilkens, Lynne R LR; Goodman, Marc T MT; Runnebaum, Ingo I; Hillemanns, Peter A PA; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Edwards, Robert P RP; Ness, Roberta B RB; Moysich, Kirsten B KB; du Bois, Andreas A; Heitz, Florian F; Harter, Philipp P; Kommoss, Stefan S; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Jensen, Allan A; Kjaer, Susanne Krüger SK; Høgdall, Estrid E; Peissel, Bernard B; Bonanni, Bernardo B; Bernard, Loris L; Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Larson, Melissa C MC; Fogarty, Zachary C ZC; Kalli, Kimberly R KR; Liang, Dong D; Lu, Karen H KH; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Dao, Fanny F; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Marks, Jeffrey R JR; Akushevich, Lucy L; Cramer, Daniel W DW; Schildkraut, Joellen J; Terry, Kathryn L KL; Poole, Elizabeth M EM; Stampfer, Meir M; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Bjorge, Line L; Salvesen, Helga B HB; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Pejovic, Tanja T; Bean, Yukie Y; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Górski, Bohdan B; Gronwald, Jacek J; Menkiszak, Janusz J; Høgdall, Claus K CK; Lundvall, Lene L; Nedergaard, Lotte L; Engelholm, Svend Aage SA; Dicks, Ed E; Tyrer, Jonathan J; Campbell, Ian I; McNeish, Iain I; Paul, James J; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Cai, Hui H; Shu, Xiao-Ou XO; Teten, Rachel T RT; Sutphen, Rebecca R; McLaughlin, John R JR; Narod, Steven A SA; Phelan, Catherine M CM; Monteiro, Alvaro N AN; Fenstermacher, David D; Lin, Hui-Yi HY; Permuth, Jennifer B JB; Sellers, Thomas A TA; Chen, Y Ann YA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Menon, Usha U; Wu, Anna H AH; Pearce, Celeste L CL; Van Den Berg, David D; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Moes-Sosnowska, Joanna J; Kupryjanczyk, Jolanta J; Pharoah, Paul Dp PD; Song, Honglin H; Winship, Ingrid I; Chenevix-Trench, Georgia G; Giles, Graham G GG; Tavtigian, Sean V SV; Easton, Doug F DF; Milne, Roger L RL
Publication Date: 2016-12

Variant appearance in text: PALB2: 1343G>T
PubMed Link: 27595995
Variant Present in the following documents:
  • jmedgenet-2016-103839supp.pdf
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