BAP1 c.1946G>A ;(p.C649Y)

Variant ID: 3-52436832-C-T

NM_004656.3(BAP1):c.1946G>A;(p.C649Y)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications
Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H
Publication Date: 2022-08-02

Variant appearance in text: BAP1: 1946G>A; C649Y
PubMed Link: 35918329
Variant Present in the following documents:
  • 41467_2022_31866_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: BAP1: C649Y
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Large-scale analysis of BAP1 expression reveals novel associations with clinical and molecular features of malignant pleural mesothelioma.

The Journal Of Pathology
De Rienzo, Assunta A; Chirieac, Lucian R LR; Hung, Yin P YP; Severson, David T DT; Freyaldenhoven, Samuel S; Gustafson, Corinne E CE; Dao, Nhien T NT; Meyerovitz, Claire V CV; Oster, Michela E ME; Jensen, Roderick V RV; Yeap, Beow Y BY; Bueno, Raphael R; Richards, William G WG
Publication Date: 2021-01

Variant appearance in text: BAP1: C649Y
PubMed Link: 32944962
Variant Present in the following documents:
  • PATH-253-68-s002.xls, sheet 2
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs151308667
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: BAP1: 1946G>A; C649Y
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: BAP1: C649Y
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s13.xlsx, sheet 1
View BVdb publication page



Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.

Oncotarget
Piva, Francesco F; Giulietti, Matteo M; Occhipinti, Giulia G; Santoni, Matteo M; Massari, Francesco F; Sotte, Valeria V; Iacovelli, Roberto R; Burattini, Luciano L; Santini, Daniele D; Montironi, Rodolfo R; Cascinu, Stefano S; Principato, Giovanni G
Publication Date: 2015-10-13

Variant appearance in text: BAP1: 1946G>A; C649Y
PubMed Link: 26452128
Variant Present in the following documents:
  • oncotarget-06-32161-s002.xls, sheet 1
View BVdb publication page