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: 1612C>T; Q538*; rs80356893
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
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: 1612C>T; Gln538X
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molecular Genetics And Genomics : Mgg
Molina-Zayas, María M; Garrido-Navas, Carmen C; García-Puche, Jose Luis JL; Barwell, Julian J; Pedrinaci, Susana S; Atienza, Margarita Martínez MM; García-Linares, Susana S; de Haro-Muñoz, Tomás T; Lorente, Jose Antonio JA; Serrano, M Jose MJ; Poyatos-Andújar, Antonio A
Publication Date: 2022-05
Variant appearance in text: BRCA1: 1612C>T; Gln538Ter; rs80356893
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19
Variant appearance in text: BRCA1: 1612C>T; Gln538Ter; rs80356893
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
International Journal Of Cancer
Nurmi, Anna A; Muranen, Taru A TA; Pelttari, Liisa M LM; Kiiski, Johanna I JI; Heikkinen, Tuomas T; Lehto, Sini S; Kallioniemi, Anne A; Schleutker, Johanna J; Bützow, Ralf R; Blomqvist, Carl C; Aittomäki, Kristiina K; Nevanlinna, Heli H
Publication Date: 2019-11-15
Variant appearance in text: BRCA1: 1612C>T; Gln538Ter
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
Bmc Cancer
Cotrim, Deborah Porto DP; Ribeiro, Adriana Regina Gonçalves ARG; Paixão, Daniele D; de Queiroz Soares, Diogo Cordeiro DC; Jbili, Rima R; Pandolfi, Natasha Carvalho NC; Cezana, Camila C; de Cássia Mauro, Carine C; Mantoan, Henrique H; Bovolim, Graziele G; de Brot, Louise L; Torrezan, Giovana Tardin GT; Carraro, Dirce Maria DM; Baiocchi, Glauco G; da Cruz Formiga, Maria Nirvana MN; da Costa, Alexandre A B A AABA
Publication Date: 2019-01-03
Variant appearance in text: BRCA1: 1612C>T; Gln538Ter
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: 1612C>T; Gln538Ter
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
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
Proliferation and ovarian hormone signaling are impaired in normal breast tissues from women with BRCA1 mutations: benefit of a progesterone receptor modulator treatment as a breast cancer preventive strategy in women with inherited BRCA1 mutations.
Oncotarget
Communal, Laudine L; Vilasco, Myriam M; Hugon-Rodin, Justine J; Courtin, Aurélie A; Mourra, Najat N; Lahlou, Najiba N; Le Guillou, Morwenna M; Perrault de Jotemps, Muriel M; Chauvet, Marie-Pierre MP; Chaouat, Marc M; Pujol, Pascal P; Feunteun, Jean J; Delaloge, Suzette S; Forgez, Patricia P; Gompel, Anne A
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
Hereditary Cancer In Clinical Practice
Wojcik, P P; Jasiowka, M M; Strycharz, E E; Sobol, M M; Hodorowicz-Zaniewska, D D; Skotnicki, P P; Byrski, T T; Blecharz, P P; Marczyk, E E; Cedrych, I I; Jakubowicz, J J; Lubiński, J J; Sopik, V V; Narod, S S; Pierzchalski, P P