BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
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: 3598C>T; Gln1200Ter; rs62625307
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: 3598C>T; Gln1200Ter
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: 3598C>T; Gln1200X
Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
Bmc Cancer
Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2022-02
Variant appearance in text: BRCA1: 3598C>T; Gln1200*
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2021-03-23
Variant appearance in text: BRCA1: 3598C>T; Gln1200*
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Plos One
Sandoval, Renata Lazari RL; Leite, Ana Carolina Rathsam ACR; Barbalho, Daniel Meirelles DM; Assad, Daniele Xavier DX; Barroso, Romualdo R; Polidorio, Natalia N; Dos Anjos, Carlos Henrique CH; de Miranda, Andréa Discaciati AD; Ferreira, Ana Carolina Salles de Mendonça ACSM; Fernandes, Gustavo Dos Santos GDS; Achatz, Maria Isabel MI
Publication Date: 2021
Variant appearance in text: BRCA1: 3598C>T; Gln1200*; rs62625307
Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients.
Translational Oncology
Gallardo-Rincón, Dolores D; Álvarez-Gómez, Rosa María RM; Montes-Servín, Edgar E; Toledo-Leyva, Alfredo A; Montes-Servín, Elizabeth E; Michel-Tello, David D; Alamilla-García, Gabriela G; Bahena-González, Antonio A; Hernández-Nava, Elizabeth E; Fragoso-Ontiveros, Veronica V; Espinosa-Romero, Raquel R; Cetina-Pérez, Lucely L
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
A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
Cancers
Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C
Publication Date: 2019-08-26
Variant appearance in text: BRCA1: 3598C>T; Gln1200Ter; rs62625307
Comprehensive genomic profiling of high-grade serous ovarian carcinoma from Chinese patients identifies co-occurring mutations in the Ras/Raf pathway with TP53.
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10
Variant appearance in text: BRCA1: 3598C>T; Q1200*
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Scientific Reports
Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Plos One
Alemar, Bárbara B; Gregório, Cleandra C; Herzog, Josef J; Matzenbacher Bittar, Camila C; Brinckmann Oliveira Netto, Cristina C; Artigalas, Osvaldo O; Schwartz, Ida Vanessa D IVD; Coffa, Jordy J; Alves Camey, Suzi S; Weitzel, Jeffrey J; Ashton-Prolla, Patricia P
Publication Date: 2017
Variant appearance in text: BRCA1: 3598C>T; Gln1200Ter
High grade serous ovarian carcinomas originate in the fallopian tube.
Nature Communications
Labidi-Galy, S Intidhar SI; Papp, Eniko E; Hallberg, Dorothy D; Niknafs, Noushin N; Adleff, Vilmos V; Noe, Michael M; Bhattacharya, Rohit R; Novak, Marian M; Jones, Siân S; Phallen, Jillian J; Hruban, Carolyn A CA; Hirsch, Michelle S MS; Lin, Douglas I DI; Schwartz, Lauren L; Maire, Cecile L CL; Tille, Jean-Christophe JC; Bowden, Michaela M; Ayhan, Ayse A; Wood, Laura D LD; Scharpf, Robert B RB; Kurman, Robert R; Wang, Tian-Li TL; Shih, Ie-Ming IM; Karchin, Rachel R; Drapkin, Ronny R; Velculescu, Victor E VE
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
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017
Variant appearance in text: BRCA1: 3598C>T; Gln1200*
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08
Variant appearance in text: BRCA1: 3598C>T; Gln1200Ter
The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.
Breast Cancer Research And Treatment
Villarreal-Garza, C C; Weitzel, J N JN; Llacuachaqui, M M; Sifuentes, E E; Magallanes-Hoyos, M C MC; Gallardo, L L; Alvarez-Gómez, R M RM; Herzog, J J; Castillo, D D; Royer, R R; Akbari, Mohammad M; Lara-Medina, F F; Herrera, L A LA; Mohar, A A; Narod, S A SA
Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Torres-Mejía, Gabriela G; Royer, Robert R; Llacuachaqui, Marcia M; Akbari, Mohammad R MR; Giuliano, Anna R AR; Martínez-Matsushita, Louis L; Angeles-Llerenas, Angélica A; Ortega-Olvera, Carolina C; Ziv, Elad E; Lazcano-Ponce, Eduardo E; Phelan, Catherine M CM; Narod, Steven A SA
Publication Date: 2015-03
Variant appearance in text: BRCA1: 3598C>T; Q1200X
Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Weitzel, Jeffrey N JN; Clague, Jessica J; Martir-Negron, Arelis A; Ogaz, Raquel R; Herzog, Josef J; Ricker, Charité C; Jungbluth, Chelsy C; Cina, Cheryl C; Duncan, Paul P; Unzeitig, Gary G; Saldivar, J Salvador JS; Beattie, Mary M; Feldman, Nancy N; Sand, Sharon S; Port, Danielle D; Barragan, Deborah I DI; John, Esther M EM; Neuhausen, Susan L SL; Larson, Garrett P GP
Publication Date: 2013-01-10
Variant appearance in text: BRCA1: 3598C>T; Q1200X