Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
Journal Of Ovarian Research
Suszynska, Malwina M; Ratajska, Magdalena M; Kozlowski, Piotr P
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Human Mutation
Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2019-09
Variant appearance in text: BRCA1: 1036C>T; Pro346Ser
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
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
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.
Epigenetics
Flower, Kirsty J KJ; Shenker, Natalie S NS; El-Bahrawy, Mona M; Goldgar, David E DE; Parsons, Michael T MT; , ; , ; Spurdle, Amanda B AB; Morris, Joanna R JR; Brown, Robert R; Flanagan, James M JM
Publication Date: 2015
Variant appearance in text: BRCA1: 1036C>T; Pro346Ser
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.
Breast Cancer Research : Bcr
Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH