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: 4986+6T>C; rs80358086
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
Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.
Ethiopian Journal Of Health Sciences
Kiendrebeogo, Isabelle T IT; Zoure, Abdou A AA; Zongo, Fabienne I FI; Ouedraogo, Serge Y SY; Sawadogo, Alexis Y AY; Amegnona, Jospin J; Sombie, Herman K HK; Bazie, Jean T Valérie Elvira JTVE; Sorgho, Pegdwendé A PA; Yonli, Albert T AT; Ouedraogo, Marie N Lamoussa MNL; Obiri-Yeboah, Dorcas D; Zongo, Nayi N; Bambara, Hierrhum A HA; Simpore, Jacques J
Publication Date: 2022-07
Variant appearance in text: BRCA1: 4986+6T>C; rs80358086
Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.
Journal Of Gynecologic Oncology
Lee, Jung-Yun JY; Kim, Byoung-Gie BG; Kim, Jae-Weon JW; Lee, Jung Bok JB; Park, Eunhyang E; Joung, Je-Gun JG; Kim, Sunghoon S; Choi, Chel Hun CH; Kim, Hee Seung HS; ,
Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.
Human Genomics
Biancolella, Michela M; Ouédraogo, Nabonswindé Lamoussa Marie NLM; Zongo, Nayi N; Zohoncon, Théodora Mahoukèdè TM; Testa, Barbara B; Rizzacasa, Barbara B; Latini, Andrea A; Conte, Chiara C; Compaore, Tégwindé Rebeca TR; Ouedraogo, Charlemagne Marie Rayang-Newendé CMR; Traore, Si Simon SS; Simpore, Jacques J; Novelli, Giuseppe G
Publication Date: 2021-10-30
Variant appearance in text: BRCA1: 4986+6T>C; rs80358086
Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.
Human Genomics
Biancolella, Michela M; Ouédraogo, Nabonswindé Lamoussa Marie NLM; Zongo, Nayi N; Zohoncon, Théodora Mahoukèdè TM; Testa, Barbara B; Rizzacasa, Barbara B; Latini, Andrea A; Conte, Chiara C; Compaore, Tégwindé Rebeca TR; Ouedraogo, Charlemagne Marie Rayang-Newendé CMR; Traore, Si Simon SS; Simpore, Jacques J; Novelli, Giuseppe G
Publication Date: 2021-10-30
Variant appearance in text: BRCA1: 4986+6T>C; rs80358086
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Adedokun, Babatunde B; Zheng, Yonglan Y; Ndom, Paul P; Gakwaya, Antony A; Makumbi, Timothy T; Zhou, Alicia Y AY; Yoshimatsu, Toshio F TF; Rodriguez, Alex A; Madduri, Ravi K RK; Foster, Ian T IT; Sallam, Aminah A; Olopade, Olufunmilayo I OI; Huo, Dezheng D
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
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Human Mutation
Friebel, Tara M TM; Andrulis, Irene L IL; Balmaña, Judith J; Blanco, Amie M AM; Couch, Fergus J FJ; Daly, Mary B MB; Domchek, Susan M SM; Easton, Douglas F DF; Foulkes, William D WD; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Greene, Mark H MH; Hulick, Peter J PJ; Isaacs, Claudine C; Jankowitz, Rachel C RC; Karlan, Beth Y BY; Kirk, Judy J; Kwong, Ava A; Lee, Annette A; Lesueur, Fabienne F; Lu, Karen H KH; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Offit, Kenneth K; Palmero, Edenir I EI; Sharma, Priyanka P; Tischkowitz, Marc M; Toland, Amanda E AE; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Vega, Ana A; Weitzel, Jeffrey N JN; Collaborators, Gemo Study GS; Hoskins, Kent F KF; Maga, Tara T; Parsons, Michael T MT; McGuffog, Lesley L; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Huo, Dezheng D; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR
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
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
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
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
Cancer
Pal, Tuya T; Bonner, Devon D; Cragun, Deborah D; Monteiro, Alvaro N A AN; Phelan, Catherine C; Servais, Lily L; Kim, Jongphil J; Narod, Steven A SA; Akbari, Mohammad R MR; Vadaparampil, Susan T ST
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
Journal Of Community Genetics
Vail, Paris J PJ; Morris, Brian B; van Kan, Aric A; Burdett, Brianna C BC; Moyes, Kelsey K; Theisen, Aaron A; Kerr, Iain D ID; Wenstrup, Richard J RJ; Eggington, Julie M JM