PTEN c.48T>G ;(p.Y16*)

Variant ID: 10-89624274-T-G

NM_000314.4(PTEN):c.48T>G;(p.Y16*)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 48T>G; Tyr16Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: rs587782187
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



The 5-Hydroxymethylcytosine Landscape of Prostate Cancer.

Cancer Research
Sjöström, Martin M; Zhao, Shuang G SG; Levy, Samuel S; Zhang, Meng M; Ning, Yuhong Y; Shrestha, Raunak R; Lundberg, Arian A; Herberts, Cameron C; Foye, Adam A; Aggarwal, Rahul R; Hua, Junjie T JT; Li, Haolong H; Bergamaschi, Anna A; Maurice-Dror, Corinne C; Maheshwari, Ashutosh A; Chen, Sujun S; Ng, Sarah W S SWS; Ye, Wenbin W; Petricca, Jessica J; Fraser, Michael M; Chesner, Lisa L; Perry, Marc D MD; Moreno-Rodriguez, Thaidy T; Chen, William S WS; Alumkal, Joshi J JJ; Chou, Jonathan J; Morgans, Alicia K AK; Beer, Tomasz M TM; Thomas, George V GV; Gleave, Martin M; Lloyd, Paul P; Phillips, Tierney T; McCarthy, Erin E; Haffner, Michael C MC; Zoubeidi, Amina A; Annala, Matti M; Reiter, Robert E RE; Rettig, Matthew B MB; Witte, Owen N ON; Fong, Lawrence L; Bose, Rohit R; Huang, Franklin W FW; Luo, Jianhua J; Bjartell, Anders A; Lang, Joshua M JM; Mahajan, Nupam P NP; Lara, Primo N PN; Evans, Christopher P CP; Tran, Phuoc T PT; Posadas, Edwin M EM; He, Chuan C; Cui, Xiao-Long XL; Huang, Jiaoti J; Zwart, Wilbert W; Gilbert, Luke A LA; Maher, Christopher A CA; Boutros, Paul C PC; Chi, Kim N KN; Ashworth, Alan A; Small, Eric J EJ; He, Housheng H HH; Wyatt, Alexander W AW; Quigley, David A DA; Feng, Felix Y FY
Publication Date: 2022-11-02

Variant appearance in text: PTEN: Y16X
PubMed Link: 36251389
Variant Present in the following documents:
  • can-22-1123_supplementary_table_3_suppst3.xlsx, sheet 2
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: PTEN: Y16*
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs587782187
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs587782187
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



The genomics and epigenetics of olfactory neuroblastoma: A systematic review.

Laryngoscope Investigative Otolaryngology
Kaur, Raman Preet RP; Izumchenko, Evgeny E; Blakaj, Dukagjin M DM; Mladkova, Nikol N; Lechner, Matt M; Beaumont, Thomas L TL; Floudas, Charalampos S CS; Gallia, Gary L GL; London, Nyall R NR
Publication Date: 2021-08

Variant appearance in text: PTEN: Y16X
PubMed Link: 34401496
Variant Present in the following documents:
  • Main text
  • LIO2-6-721.pdf
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: PTEN: Y16*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_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: PTEN: Y16*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Cell Death & Disease
Choi, Seung Won SW; Lee, Yeri Y; Shin, Kayoung K; Koo, Harim H; Kim, Donggeon D; Sa, Jason K JK; Cho, Hee Jin HJ; Shin, Hye-Mi HM; Lee, Se Jeong SJ; Kim, Hyunho H; Chung, Seok S; Shin, Jihye J; Lee, Cheolju C; Nam, Do-Hyun DH
Publication Date: 2021-04-07

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 33828082
Variant Present in the following documents:
  • 41419_2021_3657_MOESM15_ESM.pdf
View BVdb publication page



Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.

Cancer Biology & Medicine
Zhou, Zhen Z; Liu, Zichuan Z; Ou, Qiuxiang Q; Wu, Xue X; Wang, Xiaonan X; Shao, Yang Y; Liu, Hongyan H; Yang, Yu Y
Publication Date: 2021-03-12

Variant appearance in text: PTEN: Y16X
PubMed Link: 33710807
Variant Present in the following documents:
  • Main text
  • cbm-18-490.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: PTEN: Y16*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: PTEN: Y16*
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Nature Medicine
Jin, Sheng Chih SC; Dong, Weilai W; Kundishora, Adam J AJ; Panchagnula, Shreyas S; Moreno-De-Luca, Andres A; Furey, Charuta G CG; Allocco, August A AA; Walker, Rebecca L RL; Nelson-Williams, Carol C; Smith, Hannah H; Dunbar, Ashley A; Conine, Sierra S; Lu, Qiongshi Q; Zeng, Xue X; Sierant, Michael C MC; Knight, James R JR; Sullivan, William W; Duy, Phan Q PQ; DeSpenza, Tyrone T; Reeves, Benjamin C BC; Karimy, Jason K JK; Marlier, Arnaud A; Castaldi, Christopher C; Tikhonova, Irina R IR; Li, Boyang B; Peña, Helena Perez HP; Broach, James R JR; Kabachelor, Edith M EM; Ssenyonga, Peter P; Hehnly, Christine C; Ge, Li L; Keren, Boris B; Timberlake, Andrew T AT; Goto, June J; Mangano, Francesco T FT; Johnston, James M JM; Butler, William E WE; Warf, Benjamin C BC; Smith, Edward R ER; Schiff, Steven J SJ; Limbrick, David D DD; Heuer, Gregory G; Jackson, Eric M EM; Iskandar, Bermans J BJ; Mane, Shrikant S; Haider, Shozeb S; Guclu, Bulent B; Bayri, Yasar Y; Sahin, Yener Y; Duncan, Charles C CC; Apuzzo, Michael L J MLJ; DiLuna, Michael L ML; Hoffman, Ellen J EJ; Sestan, Nenad N; Ment, Laura R LR; Alper, Seth L SL; Bilguvar, Kaya K; Geschwind, Daniel H DH; Günel, Murat M; Lifton, Richard P RP; Kahle, Kristopher T KT
Publication Date: 2020-11

Variant appearance in text: PTEN: Tyr16X
PubMed Link: 33077954
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: Y16*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: Y16*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2020-03

Variant appearance in text: PTEN: Y16*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Academic Pathology
Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD
Publication Date: 2019

Variant appearance in text: PTEN: Y16*
PubMed Link: 31206012
Variant Present in the following documents:
  • Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Bmc Medical Genomics
Frank, Mayu O MO; Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Robine, Nicolas N; Utro, Filippo F; Emde, Anne-Katrin AK; Chen, Bo-Juen BJ; Arora, Kanika K; Shah, Minita M; Geiger, Heather H; Felice, Vanessa V; Dikoglu, Esra E; Rahman, Sadia S; Fang, Alice A; Vacic, Vladimir V; Bergmann, Ewa A EA; Vogel, Julia L Moore JLM; Reeves, Catherine C; Khaira, Depinder D; Calabro, Anthony A; Kim, Duyang D; Lamendola-Essel, Michelle F MF; Esteves, Cecilia C; Agius, Phaedra P; Stolte, Christian C; Boockvar, John J; Demopoulos, Alexis A; Placantonakis, Dimitris G DG; Golfinos, John G JG; Brennan, Cameron C; Bruce, Jeffrey J; Lassman, Andrew B AB; Canoll, Peter P; Grommes, Christian C; Daras, Mariza M; Diamond, Eli E; Omuro, Antonio A; Pentsova, Elena E; Orange, Dana E DE; Harvey, Stephen J SJ; Posner, Jerome B JB; Michelini, Vanessa V VV; Jobanputra, Vaidehi V; Zody, Michael C MC; Kelly, John J; Parida, Laxmi L; Wrzeszczynski, Kazimierz O KO; Royyuru, Ajay K AK; Darnell, Robert B RB
Publication Date: 2019-04-25

Variant appearance in text: PTEN: Y16*
PubMed Link: 31023376
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_500.pdf
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: PTEN: Y16*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: N/A
PubMed Link: 28810143
Variant Present in the following documents:
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: rs587782187
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.

Plos Medicine
Nair, Navya N; Camacho-Vanegas, Olga O; Rykunov, Dmitry D; Dashkoff, Matthew M; Camacho, Sandra Catalina SC; Schumacher, Cassie A CA; Irish, Jonathan C JC; Harkins, Timothy T TT; Freeman, Elijah E; Garcia, Isaac I; Pereira, Elena E; Kendall, Sviatoslav S; Belfer, Rachel R; Kalir, Tamara T; Sebra, Robert R; Reva, Boris B; Dottino, Peter P; Martignetti, John A JA
Publication Date: 2016-12

Variant appearance in text: PTEN: Y16*
PubMed Link: 28027320
Variant Present in the following documents:
  • Main text
  • pmed.1002206.pdf
View BVdb publication page



Clinical Genotyping of Non-Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes.

Neoplasia (New York, N.Y.)
Tafe, Laura J LJ; Pierce, Kirsten J KJ; Peterson, Jason D JD; de Abreu, Francine F; Memoli, Vincent A VA; Black, Candice C CC; Pettus, Jason R JR; Marotti, Jonathan D JD; Gutmann, Edward J EJ; Liu, Xiaoying X; Shirai, Keisuke K; Dragnev, Konstantin H KH; Amos, Christopher I CI; Tsongalis, Gregory J GJ
Publication Date: 2016-09

Variant appearance in text: PTEN: Y16*
PubMed Link: 27659017
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 48T>G; Y16*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Pharmacokinetic, pharmacodynamic and biomarker evaluation of transforming growth factor-β receptor I kinase inhibitor, galunisertib, in phase 1 study in patients with advanced cancer.

Investigational New Drugs
Rodón, Jordi J; Carducci, Michael M; Sepulveda-Sánchez, Juan M JM; Azaro, Analía A; Calvo, Emiliano E; Seoane, Joan J; Braña, Irene I; Sicart, Elisabet E; Gueorguieva, Ivelina I; Cleverly, Ann A; Pillay, N Sokalingum NS; Desaiah, Durisala D; Estrem, Shawn T ST; Paz-Ares, Luis L; Holdhoff, Matthias M; Blakeley, Jaishri J; Lahn, Michael M MM; Baselga, Jose J
Publication Date: 2015-04

Variant appearance in text: PTEN: Y16*
PubMed Link: 25529192
Variant Present in the following documents:
  • Main text
  • 10637_2014_Article_192.pdf
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Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Jennifer A JA; Kiezun, Adam A; Tonzi, Peter P; Van Allen, Eliezer M EM; Carter, Scott L SL; Baca, Sylvan C SC; Cowley, Glenn S GS; Bhatt, Ami S AS; Rheinbay, Esther E; Pedamallu, Chandra Sekhar CS; Helman, Elena E; Taylor-Weiner, Amaro A; McKenna, Aaron A; DeLuca, David S DS; Lawrence, Michael S MS; Ambrogio, Lauren L; Sougnez, Carrie C; Sivachenko, Andrey A; Walensky, Loren D LD; Wagle, Nikhil N; Mora, Jaume J; de Torres, Carmen C; Lavarino, Cinzia C; Dos Santos Aguiar, Simone S; Yunes, Jose Andres JA; Brandalise, Silvia Regina SR; Mercado-Celis, Gabriela Elisa GE; Melendez-Zajgla, Jorge J; Cárdenas-Cardós, Rocío R; Velasco-Hidalgo, Liliana L; Roberts, Charles W M CW; Garraway, Levi A LA; Rodriguez-Galindo, Carlos C; Gabriel, Stacey B SB; Lander, Eric S ES; Golub, Todd R TR; Orkin, Stuart H SH; Getz, Gad G; Janeway, Katherine A KA
Publication Date: 2014-12-23

Variant appearance in text: PTEN: Y16*
PubMed Link: 25512523
Variant Present in the following documents:
  • Main text
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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PTEN: Y16*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
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High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Pigment Cell & Melanoma Research
Masaki, Taro T; Wang, Yun Y; DiGiovanna, John J JJ; Khan, Sikandar G SG; Raffeld, Mark M; Beltaifa, Senda S; Hornyak, Thomas J TJ; Darling, Thomas N TN; Lee, Chyi-Chia R CC; Kraemer, Kenneth H KH
Publication Date: 2014-05

Variant appearance in text: PTEN: Y16X
PubMed Link: 24483290
Variant Present in the following documents:
  • Main text
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Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Yun Y; Digiovanna, John J JJ; Stern, Jere B JB; Hornyak, Thomas J TJ; Raffeld, Mark M; Khan, Sikandar G SG; Oh, Kyu-Seon KS; Hollander, M Christine MC; Dennis, Philip A PA; Kraemer, Kenneth H KH
Publication Date: 2009-04-14

Variant appearance in text: PTEN: Y16X
PubMed Link: 19329485
Variant Present in the following documents:
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Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

American Journal Of Human Genetics
Sarquis, Marta S MS; Agrawal, Shipra S; Shen, Lei L; Pilarski, Robert R; Zhou, Xiao-Ping XP; Eng, Charis C
Publication Date: 2006-07

Variant appearance in text: PTEN: Y16X
PubMed Link: 16773562
Variant Present in the following documents:
  • Main text
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Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

American Journal Of Human Genetics
Zhou, Xiao-Ping XP; Marsh, Deborah J DJ; Morrison, Carl D CD; Chaudhury, Abhik R AR; Maxwell, Marius M; Reifenberger, Guido G; Eng, Charis C
Publication Date: 2003-11

Variant appearance in text: PTEN: Y16X
PubMed Link: 14566704
Variant Present in the following documents:
  • Main text
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