Germline and Somatic mutations in postmenopausal breast cancer patients.
Clinics (Sao Paulo, Brazil)
Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2021
Variant appearance in text: BRCA1: C197=; rs1799965
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
Cancers
Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Valenzuela-Palomo, Alberto A; Lorca, Víctor V; Gómez-Sanz, Alicia A; Carvalho, Sara S; Allen, Jamie J; Infante, Mar M; Pérez-Segura, Pedro P; Lázaro, Conxi C; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike P G MPG; de la Hoya, Miguel M; Velasco, Eladio A EA
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: BRCA1: 591C>T; Cys197=; rs1799965
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Journal Of Medical Genetics
Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2022-03
Variant appearance in text: BRCA1: 591C>T; Cys197Cys
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10
Variant appearance in text: BRCA1: Cys197Cys; rs1799965
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Bmc Cancer
Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE
Publication Date: 2019-07-22
Variant appearance in text: BRCA1: Cys197=; rs1799965
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Journal Of Medical Genetics
Lopez-Perolio, Irene I; Leman, Raphaël R; Behar, Raquel R; Lattimore, Vanessa V; Pearson, John F JF; Castéra, Laurent L; Martins, Alexandra A; Vaur, Dominique D; Goardon, Nicolas N; Davy, Grégoire G; Garre, Pilar P; García-Barberán, Vanesa V; Llovet, Patricia P; Pérez-Segura, Pedro P; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Hruska, Kathleen S KS; Hsuan, Vickie V; Wu, Sitao S; Pesaran, Tina T; Karam, Rachid R; Vallon-Christersson, Johan J; Borg, Ake A; , ; Valenzuela-Palomo, Alberto A; Velasco, Eladio A EA; Southey, Melissa M; Vreeswijk, Maaike P G MPG; Devilee, Peter P; Kvist, Anders A; Spurdle, Amanda B AB; Walker, Logan C LC; Krieger, Sophie S; de la Hoya, Miguel M
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10
Variant appearance in text: BRCA1: 591C>T; Cys197Cys
Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development.
Frontiers In Genetics
Maresca, Luisa L; Lodovichi, Samuele S; Lorenzoni, Alessandra A; Cervelli, Tiziana T; Monaco, Rossella R; Spugnesi, Laura L; Tancredi, Mariella M; Falaschi, Elisabetta E; Zavaglia, Katia K; Landucci, Elisabetta E; Roncella, Manuela M; Congregati, Caterina C; Gadducci, Angiolo A; Naccarato, Antonio Giuseppe AG; Caligo, Maria Adelaide MA; Galli, Alvaro A
Somatic mutations in early onset luminal breast cancer.
Oncotarget
Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA
Publication Date: 2018-04-27
Variant appearance in text: BRCA1: 591C>T; Cys197=; rs1799965
A novel molecular diagnostics platform for somatic and germline precision oncology.
Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
Cancer Medicine
Koczkowska, Magdalena M; Zuk, Monika M; Gorczynski, Adam A; Ratajska, Magdalena M; Lewandowska, Marzena M; Biernat, Wojciech W; Limon, Janusz J; Wasag, Bartosz B
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Human Molecular Genetics
de la Hoya, Miguel M; Soukarieh, Omar O; López-Perolio, Irene I; Vega, Ana A; Walker, Logan C LC; van Ierland, Yvette Y; Baralle, Diana D; Santamariña, Marta M; Lattimore, Vanessa V; Wijnen, Juul J; Whiley, Philip P; Blanco, Ana A; Raponi, Michela M; Hauke, Jan J; Wappenschmidt, Barbara B; Becker, Alexandra A; Hansen, Thomas V O TV; Behar, Raquel R; Investigators, KConFaB K; Niederacher, Diether D; Arnold, Norbert N; Dworniczak, Bernd B; Steinemann, Doris D; Faust, Ulrike U; Rubinstein, Wendy W; Hulick, Peter J PJ; Houdayer, Claude C; Caputo, Sandrine M SM; Castera, Laurent L; Pesaran, Tina T; Chao, Elizabeth E; Brewer, Carole C; Southey, Melissa C MC; van Asperen, Christi J CJ; Singer, Christian F CF; Sullivan, Jan J; Poplawski, Nicola N; Mai, Phuong P; Peto, Julian J; Johnson, Nichola N; Burwinkel, Barbara B; Surowy, Harald H; Bojesen, Stig E SE; Flyger, Henrik H; Lindblom, Annika A; Margolin, Sara S; Chang-Claude, Jenny J; Rudolph, Anja A; Radice, Paolo P; Galastri, Laura L; Olson, Janet E JE; Hallberg, Emily E; Giles, Graham G GG; Milne, Roger L RL; Andrulis, Irene L IL; Glendon, Gord G; Hall, Per P; Czene, Kamila K; Blows, Fiona F; Shah, Mitul M; Wang, Qin Q; Dennis, Joe J; Michailidou, Kyriaki K; McGuffog, Lesley L; Bolla, Manjeet K MK; Antoniou, Antonis C AC; Easton, Douglas F DF; Couch, Fergus J FJ; Tavtigian, Sean S; Vreeswijk, Maaike P MP; Parsons, Michael M; Meeks, Huong D HD; Martins, Alexandra A; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2016-06-01
Variant appearance in text: BRCA1: 591C>T; Cys197Cys; rs1799965
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
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: BRCA1: 591C>T; rs1799965
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
Biomed Research International
Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clinical Chemistry
Whiley, Phillip J PJ; de la Hoya, Miguel M; Thomassen, Mads M; Becker, Alexandra A; Brandão, Rita R; Pedersen, Inge Sokilde IS; Montagna, Marco M; Menéndez, Mireia M; Quiles, Francisco F; Gutiérrez-Enríquez, Sara S; De Leeneer, Kim K; Tenés, Anna A; Montalban, Gemma G; Tserpelis, Demis D; Yoshimatsu, Toshio T; Tirapo, Carole C; Raponi, Michela M; Caldes, Trinidad T; Blanco, Ana A; Santamariña, Marta M; Guidugli, Lucia L; de Garibay, Gorka Ruiz GR; Wong, Ming M; Tancredi, Mariella M; Fachal, Laura L; Ding, Yuan Chun YC; Kruse, Torben T; Lattimore, Vanessa V; Kwong, Ava A; Chan, Tsun Leung TL; Colombo, Mara M; De Vecchi, Giovanni G; Caligo, Maria M; Baralle, Diana D; Lázaro, Conxi C; Couch, Fergus F; Radice, Paolo P; Southey, Melissa C MC; Neuhausen, Susan S; Houdayer, Claude C; Fackenthal, Jim J; Hansen, Thomas Van Overeem TV; Vega, Ana A; Diez, Orland O; Blok, Rien R; Claes, Kathleen K; Wappenschmidt, Barbara B; Walker, Logan L; Spurdle, Amanda B AB; Brown, Melissa A MA; ,
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Plos One
Wappenschmidt, Barbara B; Becker, Alexandra A AA; Hauke, Jan J; Weber, Ute U; Engert, Stefanie S; Köhler, Juliane J; Kast, Karin K; Arnold, Norbert N; Rhiem, Kerstin K; Hahnen, Eric E; Meindl, Alfons A; Schmutzler, Rita K RK
Publication Date: 2012
Variant appearance in text: BRCA1: C197C; rs1799965
Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.
Journal Of Medical Genetics
Haffty, B G BG; Silber, A A; Matloff, E E; Chung, J J; Lannin, D D