Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Genes & Diseases
Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y
ATR Inhibitor AZD6738 (Ceralasertib) Exerts Antitumor Activity as a Monotherapy and in Combination with Chemotherapy and the PARP Inhibitor Olaparib.
Cancer Research
Wilson, Zena Z; Odedra, Rajesh R; Wallez, Yann Y; Wijnhoven, Paul W G PWG; Hughes, Adina M AM; Gerrard, Joe J; Jones, Gemma N GN; Bargh-Dawson, Hannah H; Brown, Elaine E; Young, Lucy A LA; O'Connor, Mark J MJ; Lau, Alan A
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: CDH1: 1849G>A; Ala617Thr; rs33935154
Hispanic/Latino Patients with Gastric Adenocarcinoma Have Distinct Molecular Profiles Including a High Rate of Germline CDH1 Variants.
Cancer Research
Wang, Sam C SC; Yeu, Yunku Y; Hammer, Suntrea T G STG; Xiao, Shu S; Zhu, Min M; Hong, Changjin C; Clemenceau, Jean R JR; Yoon, Lynn Y LY; Nassour, Ibrahim I; Shen, Jeanne J; Agarwal, Deepak D; Reznik, Scott I SI; Mansour, John C JC; Yopp, Adam C AC; Zhu, Hao H; Hwang, Tae Hyun TH; Porembka, Matthew R MR
A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
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: CDH1: Ala617Thr; rs33935154
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: CDH1: A617T; rs33935154
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: CDH1: A617T; rs33935154
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: CDH1: 1849G>A; A617T; rs33935154
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).
Genetics And Molecular Biology
El-Husny, Antonette A; Raiol-Moraes, Milene M; Amador, Marcos M; Ribeiro-Dos-Santos, André M AM; Montagnini, André A; Barbosa, Silvanira S; Silva, Artur A; Assumpção, Paulo P; Ishak, Geraldo G; Santos, Sidney S; Pinto, Pablo P; Cruz, Aline A; Ribeiro-Dos-Santos, Ândrea Â
Publication Date: 2016-05-13
Variant appearance in text: CDH1: 1849G>A; Ala617Thr; rs33935154
Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.
Plos One
Pan, Chong-Xian CX; Zhang, Hongyong H; Tepper, Clifford G CG; Lin, Tzu-yin TY; Davis, Ryan R RR; Keck, James J; Ghosh, Paramita M PM; Gill, Parkash P; Airhart, Susan S; Bult, Carol C; Gandara, David R DR; Liu, Edison E; de Vere White, Ralph W RW
Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
Hereditary Cancer In Clinical Practice
Valente, Allyson L AL; Rummel, Seth S; Shriver, Craig D CD; Ellsworth, Rachel E RE
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: CDH1: A617T; rs33935154
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
British Journal Of Cancer
Leongamornlert, D D; Saunders, E E; Dadaev, T T; Tymrakiewicz, M M; Goh, C C; Jugurnauth-Little, S S; Kozarewa, I I; Fenwick, K K; Assiotis, I I; Barrowdale, D D; Govindasami, K K; Guy, M M; Sawyer, E E; Wilkinson, R R; , ; Antoniou, A C AC; Eeles, R R; Kote-Jarai, Z Z
Novel mutations target distinct subgroups of medulloblastoma.
Nature
Robinson, Giles G; Parker, Matthew M; Kranenburg, Tanya A TA; Lu, Charles C; Chen, Xiang X; Ding, Li L; Phoenix, Timothy N TN; Hedlund, Erin E; Wei, Lei L; Zhu, Xiaoyan X; Chalhoub, Nader N; Baker, Suzanne J SJ; Huether, Robert R; Kriwacki, Richard R; Curley, Natasha N; Thiruvenkatam, Radhika R; Wang, Jianmin J; Wu, Gang G; Rusch, Michael M; Hong, Xin X; Becksfort, Jared J; Gupta, Pankaj P; Ma, Jing J; Easton, John J; Vadodaria, Bhavin B; Onar-Thomas, Arzu A; Lin, Tong T; Li, Shaoyi S; Pounds, Stanley S; Paugh, Steven S; Zhao, David D; Kawauchi, Daisuke D; Roussel, Martine F MF; Finkelstein, David D; Ellison, David W DW; Lau, Ching C CC; Bouffet, Eric E; Hassall, Tim T; Gururangan, Sridharan S; Cohn, Richard R; Fulton, Robert S RS; Fulton, Lucinda L LL; Dooling, David J DJ; Ochoa, Kerri K; Gajjar, Amar A; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Zhang, Jinghui J; Gilbertson, Richard J RJ
Publication Date: 2012-08-02
Variant appearance in text: CDH1: A617T; rs33935154
Clinical effect of point mutations in myelodysplastic syndromes.
The New England Journal Of Medicine
Bejar, Rafael R; Stevenson, Kristen K; Abdel-Wahab, Omar O; Galili, Naomi N; Nilsson, Björn B; Garcia-Manero, Guillermo G; Kantarjian, Hagop H; Raza, Azra A; Levine, Ross L RL; Neuberg, Donna D; Ebert, Benjamin L BL
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.
Nature Genetics
Barretina, Jordi J; Taylor, Barry S BS; Banerji, Shantanu S; Ramos, Alexis H AH; Lagos-Quintana, Mariana M; Decarolis, Penelope L PL; Shah, Kinjal K; Socci, Nicholas D ND; Weir, Barbara A BA; Ho, Alan A; Chiang, Derek Y DY; Reva, Boris B; Mermel, Craig H CH; Getz, Gad G; Antipin, Yevgenyi Y; Beroukhim, Rameen R; Major, John E JE; Hatton, Charles C; Nicoletti, Richard R; Hanna, Megan M; Sharpe, Ted T; Fennell, Tim J TJ; Cibulskis, Kristian K; Onofrio, Robert C RC; Saito, Tsuyoshi T; Shukla, Neerav N; Lau, Christopher C; Nelander, Sven S; Silver, Serena J SJ; Sougnez, Carrie C; Viale, Agnes A; Winckler, Wendy W; Maki, Robert G RG; Garraway, Levi A LA; Lash, Alex A; Greulich, Heidi H; Root, David E DE; Sellers, William R WR; Schwartz, Gary K GK; Antonescu, Cristina R CR; Lander, Eric S ES; Varmus, Harold E HE; Ladanyi, Marc M; Sander, Chris C; Meyerson, Matthew M; Singer, Samuel S
Oliveira, Carla C; Suriano, Gianpaolo G; Ferreira, Paulo P; Canedo, Paulo P; Kaurah, Pardeep P; Mateus, Rita R; Ferreira, Ana A; Ferreira, António C AC; Oliveira, Maria José MJ; Figueiredo, Céu C; Carneiro, Fátima F; Keller, Gisela G; Huntsman, David D; Machado, José Carlos JC; Seruca, Raquel R