DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus.
Biorxiv : The Preprint Server For Biology
Diabate, Mariame M; Islam, Muhtadi M MM; Nagy, Gregory G; Banerjee, Tapahsama T; Dhar, Shruti S; Smith, Nahum N; Adamovich, Aleksandra I AI; Starita, Lea M LM; Parvin, Jeffrey D JD
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BRCA1: 212G>A; R71K; rs80356913
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA1: 212G>A; Arg71Lys
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
Frontiers In Genetics
Van der Merwe, Nerina C NC; Combrink, Herkulaas MvE HM; Ntaita, Kholiwe S KS; Oosthuizen, Jaco J
Publication Date: 2022
Variant appearance in text: BRCA1: 212G>A; Arg71Lys; rs80356913
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: BRCA1: 212G>A; Arg71Lys; rs80356913
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: BRCA1: 212G>A; Arg71Lys; rs80356913
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
Accurate classification of BRCA1 variants with saturation genome editing.
Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
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
Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.
Oncology Letters
Fang, Min M; Zhu, Li L; Li, Hengyu H; Li, Xizhou X; Wu, Yanmei Y; Wu, Kainan K; Lin, Jian J; Sheng, Yuan Y; Yu, Yue Y
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Bmc Cancer
Francies, F Z FZ; Wainstein, T T; De Leeneer, K K; Cairns, A A; Murdoch, M M; Nietz, S S; Cubasch, H H; Poppe, B B; Van Maerken, T T; Crombez, B B; Coene, I I; Kerr, R R; Slabbert, J P JP; Vral, A A; Krause, A A; Baeyens, A A; Claes, K B M KB
BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
Plos One
Morrison, Arianne A; Chekaluk, Yvonne Y; Bacares, Ruben R; Ladanyi, Marc M; Zhang, Liying L
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
Genetics
Starita, Lea M LM; Young, David L DL; Islam, Muhtadi M; Kitzman, Jacob O JO; Gullingsrud, Justin J; Hause, Ronald J RJ; Fowler, Douglas M DM; Parvin, Jeffrey D JD; Shendure, Jay J; Fields, Stanley S
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
Plos One
Caleca, Laura L; Putignano, Anna Laura AL; Colombo, Mara M; Congregati, Caterina C; Sarkar, Mohosin M; Magliery, Thomas J TJ; Ripamonti, Carla B CB; Foglia, Claudia C; Peissel, Bernard B; Zaffaroni, Daniela D; Manoukian, Siranoush S; Tondini, Carlo C; Barile, Monica M; Pensotti, Valeria V; Bernard, Loris L; Papi, Laura L; Radice, Paolo P
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Plos One
Colombo, Mara M; De Vecchi, Giovanna G; Caleca, Laura L; Foglia, Claudia C; Ripamonti, Carla B CB; Ficarazzi, Filomena F; Barile, Monica M; Varesco, Liliana L; Peissel, Bernard B; Manoukian, Siranoush S; Radice, Paolo P