PTEN c.1003C>T ;(p.R335*)

Variant ID: 10-89720852-C-T

NM_000314.4(PTEN):c.1003C>T;(p.R335*)

This variant was identified in 143 publications

View GRCh38 version.




Publications:


Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy
Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG
Publication Date: 2023-04-26

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 37099071
Variant Present in the following documents:
  • 40291_2023_651_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic Pathology
Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B
Publication Date: 2023-04-04

Variant appearance in text: PTEN: R335X
PubMed Link: 37016356
Variant Present in the following documents:
  • Main text
  • 13000_2023_Article_1331.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PTEN: 1003C>T; Arg335Ter; rs121909231
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



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: 1003C>T; Arg335Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C
Publication Date: 2023-01-17

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 36648487
Variant Present in the following documents:
  • ccr-22-2903_supplementary_information_1_suppms1.pdf
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: PTEN: R335*
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Emerging target discovery and drug repurposing opportunities in chordoma.

Frontiers In Oncology
Freed, Daniel M DM; Sommer, Josh J; Punturi, Nindo N
Publication Date: 2022

Variant appearance in text: PTEN: R335*
PubMed Link: 36387127
Variant Present in the following documents:
  • Main text
  • fonc-12-1009193.pdf
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: PTEN: R335*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s006.xlsx, sheet 2
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.

Cancer Discovery
Newell, Felicity F; Johansson, Peter A PA; Wilmott, James S JS; Nones, Katia K; Lakis, Vanessa V; Pritchard, Antonia L AL; Lo, Serigne N SN; Rawson, Robert V RV; Kazakoff, Stephen H SH; Colebatch, Andrew J AJ; Koufariotis, Lambros T LT; Ferguson, Peter M PM; Wood, Scott S; Leonard, Conrad C; Law, Matthew H MH; Brooks, Kelly M KM; Broit, Natasa N; Palmer, Jane M JM; Couts, Kasey L KL; Vergara, Ismael A IA; Long, Georgina V GV; Barbour, Andrew P AP; Nieweg, Omgo E OE; Shivalingam, Brindha B; Robinson, William A WA; Stretch, Jonathan R JR; Spillane, Andrew J AJ; Saw, Robyn P M RPM; Shannon, Kerwin F KF; Thompson, John F JF; Mann, Graham J GJ; Pearson, John V JV; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK
Publication Date: 2022-12-02

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 36098958
Variant Present in the following documents:
  • cd-22-0603_supp6.xlsx, sheet 1
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: R335*
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology
Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S
Publication Date: 2022

Variant appearance in text: PTEN: R335*
PubMed Link: 35990641
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Life (Basel, Switzerland)
Guarnaccia, Maria M; Guarnaccia, Laura L; La Cognata, Valentina V; Navone, Stefania Elena SE; Campanella, Rolando R; Ampollini, Antonella A; Locatelli, Marco M; Miozzo, Monica M; Marfia, Giovanni G; Cavallaro, Sebastiano S
Publication Date: 2022-06-24

Variant appearance in text: PTEN: 1003C>T; Arg335Ter
PubMed Link: 35888045
Variant Present in the following documents:
  • Main text
  • life-12-00956.pdf
View BVdb publication page



Langerhans cell histiocytosis in adolescent patients: a single-centre retrospective study.

Orphanet Journal Of Rare Diseases
Cai, Hua-Cong HC; Chen, Jia J; Liu, Ting T; Cai, Hao H; Duan, Ming-Hui MH; Li, Jian J; Zhou, Dao-Bin DB; Cao, Xin-Xin XX
Publication Date: 2022-07-15

Variant appearance in text: PTEN: R335X
PubMed Link: 35841042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PTEN: R335*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.

Jama Oncology
Gallant, Jean-Nicolas JN; Chen, Sheau-Chiann SC; Ortega, Carlos A CA; Rohde, Sarah L SL; Belcher, Ryan H RH; Netterville, James L JL; Baregamian, Naira N; Wang, Huiying H; Liang, Jiancong J; Ye, Fei F; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Weiss, Vivian L VL
Publication Date: 2022-09-01

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 35679040
Variant Present in the following documents:
  • jamaoncol-e221655-s001.pdf
View BVdb publication page



Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology
Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA
Publication Date: 2022-10-03

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 35395677
Variant Present in the following documents:
  • noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5
View BVdb publication page



Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases
Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,
Publication Date: 2022-02-28

Variant appearance in text: PTEN: 1003C>T; Arg335*
PubMed Link: 35227301
Variant Present in the following documents:
  • Main text
  • 13023_2021_2079_MOESM1_ESM.pdf
  • 13023_2021_Article_2079.pdf
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: PTEN: 1003C>T; Arg335Ter
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, 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: rs121909231
PubMed Link: 35081118
Variant Present in the following documents:
  • 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: rs121909231
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.

Neuro-Oncology Advances
van de Geer, Wesley S WS; Hoogstrate, Youri Y; Draaisma, Kaspar K; Robe, Pierre A PA; Bins, Sander S; Mathijssen, Ron H J RHJ; French, Pim P; van de Werken, Harmen J G HJG; de Vos, Filip Y F FYF
Publication Date: 2022

Variant appearance in text: PTEN: Arg335*
PubMed Link: 35047820
Variant Present in the following documents:
  • vdab177_suppl_supplementary_data.xlsx, sheet 6
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: PTEN: R335*
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.

Journal Of Ovarian Research
Watanabe, Takafumi T; Nanamiya, Hideaki H; Endo, Yuta Y; Kojima, Manabu M; Nomura, Shinji S; Furukawa, Shigenori S; Soeda, Shu S; Tamura, Hirosumi H; Ryufuku, Masae M; Tanaka, Daisuke D; Isogai, Takao T; Imai, Jun-Ichi JI; Watanabe, Shinya S; Fujimori, Keiya K
Publication Date: 2021-10-06

Variant appearance in text: PTEN: 1003C>T; Arg335Ter; rs121909231
PubMed Link: 34615547
Variant Present in the following documents:
  • 13048_2021_876_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: PTEN: 1003C>T; Arg335Ter; rs121909231
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
  • mmc2.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications
Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L
Publication Date: 2021-08-24

Variant appearance in text: PTEN: R335*
PubMed Link: 34429404
Variant Present in the following documents:
  • 41467_2021_25177_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.

Frontiers In Medicine
Innella, Giovanni G; Bonora, Elena E; Neri, Iria I; Virdi, Annalucia A; Guglielmo, Alba A; Pradella, Laura Maria LM; Ceccarelli, Claudio C; Amato, Laura Benedetta LB; Lanzoni, Anna A; Miccoli, Sara S; Gasparre, Giuseppe G; Zuntini, Roberta R; Turchetti, Daniela D
Publication Date: 2021

Variant appearance in text: PTEN: 1003C>T; Arg335*
PubMed Link: 34386506
Variant Present in the following documents:
  • Main text
  • fmed-08-688105.pdf
View BVdb publication page



Integrated multi-omics analyses on patient-derived CRC organoids highlight altered molecular pathways in colorectal cancer progression involving PTEN.

Journal Of Experimental & Clinical Cancer Research : Cr
Codrich, Marta M; Dalla, Emiliano E; Mio, Catia C; Antoniali, Giulia G; Malfatti, Matilde Clarissa MC; Marzinotto, Stefania S; Pierobon, Mariaelena M; Baldelli, Elisa E; Di Loreto, Carla C; Damante, Giuseppe G; Terrosu, Giovanni G; Pucillo, Carlo Ennio Michele CEM; Tell, Gianluca G
Publication Date: 2021-06-21

Variant appearance in text: PTEN: R335X
PubMed Link: 34154611
Variant Present in the following documents:
  • Main text
  • 13046_2021_Article_1986.pdf
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: R335*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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: 1003C>T; R335*
PubMed Link: 33828082
Variant Present in the following documents:
  • 41419_2021_3657_MOESM15_ESM.pdf
View BVdb publication page



Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling.

Nature Cell Biology
Ponsioen, Bas B; Post, Jasmin B JB; Buissant des Amorie, Julian R JR; Laskaris, Dimitrios D; van Ineveld, Ravian L RL; Kersten, Simone S; Bertotti, Andrea A; Sassi, Francesco F; Sipieter, François F; Cappe, Benjamin B; Mertens, Sander S; Verlaan-Klink, Ingrid I; Boj, Sylvia F SF; Vries, Rob G J RGJ; Rehmann, Holger H; Vandenabeele, Peter P; Riquet, Franck B FB; Trusolino, Livio L; Bos, Johannes L JL; Snippert, Hugo J G HJG
Publication Date: 2021-04

Variant appearance in text: PTEN: R335*
PubMed Link: 33795873
Variant Present in the following documents:
  • EMS118801-supplement-Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Scientific Reports
Muendlein, Axel A; Geiger, Kathrin K; Gaenger, Stella S; Dechow, Tobias T; Nonnenbroich, Christoph C; Leiherer, Andreas A; Drexel, Heinz H; Gaumann, Andreas A; Jagla, Wolfgang W; Winder, Thomas T; Mayer, Frank F; Decker, Thomas T
Publication Date: 2021-03-24

Variant appearance in text: PTEN: 1003C>T; Arg335*; rs121909231
PubMed Link: 33762647
Variant Present in the following documents:
  • 41598_2021_86238_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The transcriptional landscape of Shh medulloblastoma.

Nature Communications
Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD
Publication Date: 2021-03-19

Variant appearance in text: PTEN: R335X
PubMed Link: 33741928
Variant Present in the following documents:
  • 41467_2021_21883_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: PTEN: R335*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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: 1003C>T; R335*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PTEN: R335*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.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: R335*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: PTEN: 1003C>T; Arg335*; rs121909231
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.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: Arg335X
PubMed Link: 33077954
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International
Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y
Publication Date: 2020

Variant appearance in text: PTEN: 1003C>T; Arg335Ter
PubMed Link: 33062672
Variant Present in the following documents:
  • 2495157.f1.xlsx, sheet 5
View BVdb publication page



The genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: PTEN: R335*
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 2
View BVdb publication page



Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.

Acta Neuropathologica
Golebiewska, Anna A; Hau, Ann-Christin AC; Oudin, Anaïs A; Stieber, Daniel D; Yabo, Yahaya A YA; Baus, Virginie V; Barthelemy, Vanessa V; Klein, Eliane E; Bougnaud, Sébastien S; Keunen, Olivier O; Wantz, May M; Michelucci, Alessandro A; Neirinckx, Virginie V; Muller, Arnaud A; Kaoma, Tony T; Nazarov, Petr V PV; Azuaje, Francisco F; De Falco, Alfonso A; Flies, Ben B; Richart, Lorraine L; Poovathingal, Suresh S; Arns, Thais T; Grzyb, Kamil K; Mock, Andreas A; Herold-Mende, Christel C; Steino, Anne A; Brown, Dennis D; May, Patrick P; Miletic, Hrvoje H; Malta, Tathiane M TM; Noushmehr, Houtan H; Kwon, Yong-Jun YJ; Jahn, Winnie W; Klink, Barbara B; Tanner, Georgette G; Stead, Lucy F LF; Mittelbronn, Michel M; Skupin, Alexander A; Hertel, Frank F; Bjerkvig, Rolf R; Niclou, Simone P SP
Publication Date: 2020-12

Variant appearance in text: PTEN: R335*
PubMed Link: 33009951
Variant Present in the following documents:
  • 401_2020_2226_MOESM1_ESM.pdf
View BVdb publication page



Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: PTEN: R335*
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: PTEN: R335*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances
Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A
Publication Date: 2020

Variant appearance in text: PTEN: 1003C>T; Arg335Ter
PubMed Link: 32642724
Variant Present in the following documents:
  • vdz059_suppl_suplementary_table_2.xlsx, sheet 1
View BVdb publication page



Biomarkers in Triple-Negative Breast Cancer: State-of-the-Art and Future Perspectives.

International Journal Of Molecular Sciences
Cocco, Stefania S; Piezzo, Michela M; Calabrese, Alessandra A; Cianniello, Daniela D; Caputo, Roberta R; Lauro, Vincenzo Di VD; Fusco, Giuseppina G; Gioia, Germira di GD; Licenziato, Marina M; De Laurentiis, Michelino M
Publication Date: 2020-06-27

Variant appearance in text: PTEN: R335X
PubMed Link: 32605126
Variant Present in the following documents:
  • Main text
  • ijms-21-04579.pdf
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: R335*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: PTEN: 1003C>T; Arg335*
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One
Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL
Publication Date: 2020

Variant appearance in text: PTEN: 1003C>T; R335*
PubMed Link: 32520976
Variant Present in the following documents:
  • pone.0233900.s001.xlsx, sheet 1
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: R335*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: rs121909231
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: R335X
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04

Variant appearance in text: PTEN: Arg335Ter; rs121909231
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: PTEN: 1003C>T; Arg335*
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



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
Publication Date: 2020-07

Variant appearance in text: PTEN: R335*
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine
Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J
Publication Date: 2020-02-18

Variant appearance in text: PTEN: R335X
PubMed Link: 32070411
Variant Present in the following documents:
  • 13073_2020_717_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

Jama Network Open
Yehia, Lamis L; Seyfi, Marilyn M; Niestroj, Lisa-Marie LM; Padmanabhan, Roshan R; Ni, Ying Y; Frazier, Thomas W TW; Lal, Dennis D; Eng, Charis C
Publication Date: 2020-01-03

Variant appearance in text: PTEN: Arg335*
PubMed Link: 32003824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature
Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, Iñigo I; Janes, Sam M SM; Campbell, Peter J PJ
Publication Date: 2020-02

Variant appearance in text: PTEN: R335X
PubMed Link: 31996850
Variant Present in the following documents:
  • EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5
View BVdb publication page



White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications
Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE
Publication Date: 2020-01-27

Variant appearance in text: PTEN: R335*
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM11_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM1_ESM.pdf
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 9
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
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: 1003C>T; R335*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: PTEN: R335*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
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: R335X
PubMed Link: 31206012
Variant Present in the following documents:
  • Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M
Publication Date: 2019

Variant appearance in text: PTEN: R335*
PubMed Link: 31086789
Variant Present in the following documents:
  • Main text
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: R335*
PubMed Link: 31023376
Variant Present in the following documents:
  • 12920_2019_Article_500.pdf
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