Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
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: BRCA2: -26G>A; rs1799943
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: BRCA2: -26G>A; rs1799943
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16
Variant appearance in text: BRCA2: -26G>A; rs1799943
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: BRCA2: -26G>A; rs1799943
Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.
Frontiers In Oncology
Oosthuizen, Jaco J; Kotze, Maritha J MJ; Van Der Merwe, Nicole N; Myburgh, Ettienne J EJ; Bester, Phillip P; van der Merwe, Nerina C NC
Publication Date: 2020
Variant appearance in text: BRCA2: -26G>A; rs1799943
Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.
Genes
Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD
EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.
Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15
Variant appearance in text: BRCA2: -26G>A; rs1799943
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: BRCA2: -26G>A; rs1799943
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
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: BRCA2: -26G>A; rs1799943
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: BRCA2: -26G>A; rs1799943
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: BRCA2: -26G>A; rs1799943
Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
Prostate Cancer And Prostatic Diseases
Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M
Publication Date: 2019-09
Variant appearance in text: BRCA2: -26G>A; rs1799943
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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: BRCA2: -26G>A; rs1799943
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Human Mutation
Colombo, Mara M; Lòpez-Perolio, Irene I; Meeks, Huong D HD; Caleca, Laura L; Parsons, Michael T MT; Li, Hongyan H; De Vecchi, Giovanna G; Tudini, Emma E; Foglia, Claudia C; Mondini, Patrizia P; Manoukian, Siranoush S; Behar, Raquel R; Garcia, Encarna B Gómez EBG; Meindl, Alfons A; Montagna, Marco M; Niederacher, Dieter D; Schmidt, Ane Y AY; Varesco, Liliana L; Wappenschmidt, Barbara B; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Aittomäki, Kristiina K; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Beckmann, Matthias W MW; Beeghly-Fadel, Alicia A; Benitez, Javier J; Boeckx, Bram B; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Brauch, Hiltrud H; Brenner, Hermann H; Burwinkel, Barbara B; Chang-Claude, Jenny J; Conroy, Don M DM; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Devilee, Peter P; Dörk, Thilo T; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Fletcher, Olivia O; Flyger, Henrik H; Gabrielson, Marike M; García-Closas, Montserrat M; Giles, Graham G GG; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hauke, Jan J; Hollestelle, Antoinette A; Hopper, John L JL; Jakubowska, Anna A; Jung, Audrey A; Kosma, Veli-Matti VM; Lambrechts, Diether D; Le Marchand, Loid L; Lindblom, Annika A; Lubinski, Jan J; Mannermaa, Arto A; Margolin, Sara S; Miao, Hui H; Milne, Roger L RL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Olson, Janet E JE; Peterlongo, Paolo P; Peto, Julian J; Pylkäs, Katri K; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; See, Mee Hoong MH; Southey, Melissa C MC; Swerdlow, Anthony A; Teo, Soo H SH; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; van Asperen, Christi J CJ; van den Ouweland, Ans M W AMW; van der Kolk, Lizet E LE; Winqvist, Robert R; Yannoukakos, Drakoulis D; Zheng, Wei W; , ; Dunning, Alison M AM; Easton, Douglas F DF; Henderson, Alex A; Hogervorst, Frans B L FBL; Izatt, Louise L; Offitt, Kenneth K; Side, Lucy E LE; van Rensburg, Elizabeth J EJ; Embrace, Study S; Hebon, Study S; McGuffog, Lesley L; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Goldgar, David E DE; Hoya, Miguel de la M; Radice, Paolo P
Publication Date: 2018-05
Variant appearance in text: BRCA2: -26G>A; rs1799943
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04
Variant appearance in text: BRCA2: -26G>A; rs1799943
Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
Molecular Genetics & Genomic Medicine
Buleje, Jose J; Guevara-Fujita, Maria M; Acosta, Oscar O; Huaman, Francia D P FDP; Danos, Pierina P; Murillo, Alexis A; Pinto, Joseph A JA; Araujo, Jhajaira M JM; Aguilar, Alfredo A; Ponce, Jaime J; Vigil, Carlos C; Castaneda, Carlos C; Calderon, Gabriela G; Gomez, Henry L HL; Fujita, Ricardo R
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017
Variant appearance in text: BRCA2: -26G>A; rs1799943
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20
Variant appearance in text: BRCA2: -26G>A; rs1799943
Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.
Plos One
Sapkota, Yadav Y; Mackey, John R JR; Lai, Raymond R; Franco-Villalobos, Conrado C; Lupichuk, Sasha S; Robson, Paula J PJ; Kopciuk, Karen K; Cass, Carol E CE; Yasui, Yutaka Y; Damaraju, Sambasivarao S
BRCA2 variants and cardiovascular disease in a multi-ethnic study.
Bmc Medical Genetics
Zbuk, Kevin K; Xie, Changchun C; Young, Robin R; Heydarpour, Mahyar M; Pare, Guillaume G; Davis, A Darlene AD; Miller, Ruby R; Lanktree, Matthew B MB; Saleheen, Danish D; Danesh, John J; Yusuf, Salim S; Engert, James C JC; Hegele, Robert A RA; Anand, Sonia S SS
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Breast Cancer Research : Bcr
Maia, Ana-Teresa AT; Antoniou, Antonis C AC; O'Reilly, Martin M; Samarajiwa, Shamith S; Dunning, Mark M; Kartsonaki, Christiana C; Chin, Suet-Feung SF; Curtis, Christina N CN; McGuffog, Lesley L; Domchek, Susan M SM; , ; Easton, Douglas F DF; Peock, Susan S; Frost, Debra D; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Adlard, Julian J; Eccles, Diana D; , ; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Stoppa-Lyonnet, Dominique D; Gauthier-Villars, Marion M; Faivre, Laurence L; Venat-Bouvet, Laurence L; Delnatte, Capucine C; Nevanlinna, Heli H; Couch, Fergus J FJ; Godwin, Andrew K AK; Caligo, Maria Adelaide MA; , ; Barkardottir, Rosa B RB; , ; Chen, Xiaoqing X; Beesley, Jonathan J; Healey, Sue S; Caldas, Carlos C; Chenevix-Trench, Georgia G; Ponder, Bruce A J BA
Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.
Breast Cancer Research And Treatment
Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL
Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
The Journal Of Molecular Diagnostics : Jmd
De Leeneer, Kim K; Coene, Ilse I; Poppe, Bruce B; De Paepe, Anne A; Claes, Kathleen K
Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.
The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
Breast Cancer Research : Bcr
Gochhait, Sailesh S; Bukhari, Syed Irfan Ahmad SI; Bairwa, Narendra N; Vadhera, Shivani S; Darvishi, Katayoon K; Raish, Mohammad M; Gupta, Pawan P; Husain, Syed Akhtar SA; Bamezai, Rameshwar N K RN