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: 3661G>T; Glu1221Ter; rs80357310
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: 3661G>T; Glu1221Ter
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
Publication Date: 2022-10-06
Variant appearance in text: BRCA1: 3661G>T; Glu1221X
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: BRCA1: E1221X; rs80357310
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
BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma.
Journal Of The American College Of Surgeons
Blair, Alex B AB; Groot, Vincent P VP; Gemenetzis, Georgios G; Wei, Jishu J; Cameron, John L JL; Weiss, Matthew J MJ; Goggins, Michael M; Wolfgang, Christopher L CL; Yu, Jun J; He, Jin J
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
European Journal Of Human Genetics : Ejhg
Walker, Logan C LC; Marquart, Louise L; Pearson, John F JF; Wiggins, George A R GA; O'Mara, Tracy A TA; Parsons, Michael T MT; , ; Barrowdale, Daniel D; McGuffog, Lesley L; Dennis, Joe J; Benitez, Javier J; Slavin, Thomas P TP; Radice, Paolo P; Frost, Debra D; , ; Godwin, Andrew K AK; Meindl, Alfons A; Schmutzler, Rita Katharina RK; , ; Isaacs, Claudine C; Peshkin, Beth N BN; Caldes, Trinidad T; Hogervorst, Frans Bl FB; , ; Lazaro, Conxi C; Jakubowska, Anna A; Montagna, Marco M; , ; Chen, Xiaoqing X; Offit, Kenneth K; Hulick, Peter J PJ; Andrulis, Irene L IL; Lindblom, Annika A; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Couch, Fergus J FJ; Spurdle, Amanda B AB
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.
Breast Cancer Research : Bcr
Baert, Annelot A; Depuydt, Julie J; Van Maerken, Tom T; Poppe, Bruce B; Malfait, Fransiska F; Storm, Katrien K; van den Ende, Jenneke J; Van Damme, Tim T; De Nobele, Sylvia S; Perletti, Gianpaolo G; De Leeneer, Kim K; Claes, Kathleen B M KB; Vral, Anne A
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: BRCA1: 3661G>T; E1221*; rs80357310