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
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
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: 442-34C>T; rs799923
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: 442-34C>T; rs799923
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
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: BRCA1: 442-34C>T; rs799923
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
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
Publication Date: 2017-09
Variant appearance in text: BRCA1: 442-34C>T; rs799923
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: BRCA1: 442-34C>T; rs799923
Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.
Prostate Cancer And Prostatic Diseases
Sanchez, A A; Schoenfeld, J D JD; Nguyen, P L PL; Fiorentino, M M; Chowdhury, D D; Stampfer, M J MJ; Sesso, H D HD; Giovannucci, E E; Mucci, L A LA; Shui, I M IM
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
BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
Springerplus
Solano, Angela Rosaria AR; Aceto, Gitana Maria GM; Delettieres, Dreanina D; Veschi, Serena S; Neuman, Maria Isabel MI; Alonso, Eduardo E; Chialina, Sergio S; Chacón, Reinaldo Daniel RD; Renato, Mariani-Costantini MC; Podestá, Ernesto Jorge EJ
Publication Date: 2012
Variant appearance in text: BRCA1: 442-34C>T; rs799923
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Human Molecular Genetics
Cox, David G DG; Simard, Jacques J; Sinnett, Daniel D; Hamdi, Yosr Y; Soucy, Penny P; Ouimet, Manon M; Barjhoux, Laure L; Verny-Pierre, Carole C; McGuffog, Lesley L; Healey, Sue S; Szabo, Csilla C; Greene, Mark H MH; Mai, Phuong L PL; Andrulis, Irene L IL; , ; Thomassen, Mads M; Gerdes, Anne-Marie AM; Caligo, Maria A MA; Friedman, Eitan E; Laitman, Yael Y; Kaufman, Bella B; Paluch, Shani S SS; Borg, Åke Å; Karlsson, Per P; Askmalm, Marie Stenmark MS; Bustinza, Gisela Barbany GB; , ; Nathanson, Katherine L KL; Domchek, Susan M SM; Rebbeck, Timothy R TR; Benítez, Javier J; Hamann, Ute U; Rookus, Matti A MA; van den Ouweland, Ans M W AM; Ausems, Margreet G E M MG; Aalfs, Cora M CM; van Asperen, Christi J CJ; Devilee, Peter P; Gille, Hans J J P HJ; , ; , ; Peock, Susan S; Frost, Debra D; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Adlard, Julian J; Paterson, Joan J; Eason, Jacqueline J; Godwin, Andrew K AK; Remon, Marie-Alice MA; Moncoutier, Virginie V; Gauthier-Villars, Marion M; Lasset, Christine C; Giraud, Sophie S; Hardouin, Agnès A; Berthet, Pascaline P; Sobol, Hagay H; Eisinger, François F; Bressac de Paillerets, Brigitte B; Caron, Olivier O; Delnatte, Capucine C; , ; Goldgar, David D; Miron, Alex A; Ozcelik, Hilmi H; Buys, Saundra S; Southey, Melissa C MC; Terry, Mary Beth MB; , ; Singer, Christian F CF; Dressler, Anne-Catharina AC; Tea, Muy-Kheng MK; Hansen, Thomas V O TV; Johannsson, Oskar O; Piedmonte, Marion M; Rodriguez, Gustavo C GC; Basil, Jack B JB; Blank, Stephanie S; Toland, Amanda E AE; Montagna, Marco M; Isaacs, Claudine C; Blanco, Ignacio I; Gayther, Simon A SA; Moysich, Kirsten B KB; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Engel, Christoph C; Meindl, Alfons A; Ditsch, Nina N; Arnold, Norbert N; Niederacher, Dieter D; Sutter, Christian C; Gadzicki, Dorothea D; Fiebig, Britta B; Caldes, Trinidad T; Laframboise, Rachel R; Nevanlinna, Heli H; Chen, Xiaoqing X; Beesley, Jonathan J; Spurdle, Amanda B AB; Neuhausen, Susan L SL; Ding, Yuan C YC; Couch, Fergus J FJ; Wang, Xianshu X; Peterlongo, Paolo P; Manoukian, Siranoush S; Bernard, Loris L; Radice, Paolo P; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Stoppa-Lyonnet, Dominique D; Mazoyer, Sylvie S; Sinilnikova, Olga M OM; ,
Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221).
Breast Cancer Research And Treatment
Sucheston, Lara E LE; Zhao, Hua H; Yao, Song S; Zirpoli, Gary G; Liu, Song S; Barlow, William E WE; Moore, Halle C F HC; Thomas Budd, G G; Hershman, Dawn L DL; Davis, Warren W; Ciupak, Gregory L GL; Stewart, James A JA; Isaacs, Claudine C; Hobday, Timothy J TJ; Salim, Muhammad M; Hortobagyi, Gabriel N GN; Gralow, Julie R JR; Livingston, Robert B RB; Albain, Kathy S KS; Hayes, Daniel F DF; Ambrosone, Christine B CB
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Human Genetics
Im, Kate M KM; Kirchhoff, Tomas T; Wang, Xianshu X; Green, Todd T; Chow, Clement Y CY; Vijai, Joseph J; Korn, Joshua J; Gaudet, Mia M MM; Fredericksen, Zachary Z; Shane Pankratz, V V; Guiducci, Candace C; Crenshaw, Andrew A; McGuffog, Lesley L; Kartsonaki, Christiana C; Morrison, Jonathan J; Healey, Sue S; Sinilnikova, Olga M OM; Mai, Phuong L PL; Greene, Mark H MH; Piedmonte, Marion M; Rubinstein, Wendy S WS; , ; Hogervorst, Frans B FB; Rookus, Matti A MA; Collée, J Margriet JM; Hoogerbrugge, Nicoline N; van Asperen, Christi J CJ; Meijers-Heijboer, Hanne E J HE; Van Roozendaal, Cees E CE; Caldes, Trinidad T; Perez-Segura, Pedro P; Jakubowska, Anna A; Lubinski, Jan J; Huzarski, Tomasz T; Blecharz, Paweł P; Nevanlinna, Heli H; Aittomäki, Kristiina K; Lazaro, Conxi C; Blanco, Ignacio I; Barkardottir, Rosa B RB; Montagna, Marco M; D'Andrea, Emma E; , ; Devilee, Peter P; Olopade, Olufunmilayo I OI; Neuhausen, Susan L SL; Peissel, Bernard B; Bonanni, Bernardo B; Peterlongo, Paolo P; Singer, Christian F CF; Rennert, Gad G; Lejbkowicz, Flavio F; Andrulis, Irene L IL; Glendon, Gord G; Ozcelik, Hilmi H; , ; Toland, Amanda Ewart AE; Caligo, Maria Adelaide MA; , ; Beattie, Mary S MS; Chan, Salina S; , ; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Phelan, Catherine C; Narod, Steven S; John, Esther M EM; Hopper, John L JL; Buys, Saundra S SS; Daly, Mary B MB; Southey, Melissa C MC; Terry, Mary-Beth MB; Tung, Nadine N; Hansen, Thomas V O TV; Osorio, Ana A; Benitez, Javier J; Durán, Mercedes M; Weitzel, Jeffrey N JN; Garber, Judy J; Hamann, Ute U; , ; Peock, Susan S; Cook, Margaret M; Oliver, Clare T CT; Frost, Debra D; Platte, Radka R; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Paterson, Joan J; Brewer, Carole C; Hodgson, Shirley S; Morrison, Patrick J PJ; Porteous, Mary M; Walker, Lisa L; Rogers, Mark T MT; Side, Lucy E LE; Godwin, Andrew K AK; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Laitman, Yael Y; Meindl, Alfons A; Deissler, Helmut H; Varon-Mateeva, Raymonda R; Preisler-Adams, Sabine S; Kast, Karin K; Venat-Bouvet, Laurence L; Stoppa-Lyonnet, Dominique D; Chenevix-Trench, Georgia G; Easton, Douglas F DF; Klein, Robert J RJ; Daly, Mark J MJ; Friedman, Eitan E; Dean, Michael M; Clark, Andrew G AG; Altshuler, David M DM; Antoniou, Antonis C AC; Couch, Fergus J FJ; Offit, Kenneth K; Gold, Bert B
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
Publication Date: 2009-09
Variant appearance in text: BRCA1: 442-34C>T; rs799923
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 variation in the BRCA1 gene and prostate cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Douglas, Julie A JA; Levin, Albert M AM; Zuhlke, Kimberly A KA; Ray, Anna M AM; Johnson, Gregory R GR; Lange, Ethan M EM; Wood, David P DP; Cooney, Kathleen A KA