PTEN c.822G>A ;(p.W274*)

Variant ID: 10-89720671-G-A

NM_000314.4(PTEN):c.822G>A;(p.W274*)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Genome Medicine
Nam, Yoonhee Y; Koo, Harim H; Yang, Yingxi Y; Shin, Sang S; Zhu, Zhihan Z; Kim, Donggeon D; Cho, Hee Jin HJ; Mu, Quanhua Q; Choi, Seung Won SW; Sa, Jason K JK; Seo, Yun Jee YJ; Kim, Yejin Y; Lee, Kyoungmin K; Oh, Jeong-Woo JW; Kwon, Yong-Jun YJ; Park, Woong-Yang WY; Kong, Doo-Sik DS; Seol, Ho Jun HJ; Lee, Jung-Il JI; Park, Chul-Kee CK; Lee, Hye Won HW; Yoon, Yeup Y; Wang, Jiguang J
Publication Date: 2023-03-13

Variant appearance in text: PTEN: W274*
PubMed Link: 36915208
Variant Present in the following documents:
  • 13073_2023_1165_MOESM1_ESM.xlsx, sheet 2
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: 822G>A; Trp274Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic Profiling of Sarcomas: A Promising Weapon in the Therapeutic Arsenal.

International Journal Of Molecular Sciences
Lopes-Brás, Raquel R; Lopez-Presa, Dolores D; Esperança-Martins, Miguel M; Melo-Alvim, Cecília C; Gallego, Lina L; Costa, Luís L; Fernandes, Isabel I
Publication Date: 2022-11-17

Variant appearance in text: PTEN: W274*
PubMed Link: 36430703
Variant Present in the following documents:
  • ijms-23-14227.pdf
View BVdb publication page



Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: PTEN: W274*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 13
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: W274*
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
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: 822G>A
PubMed Link: 35888045
Variant Present in the following documents:
  • Main text
  • life-12-00956.pdf
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: PTEN: W274*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
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: rs587782607
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
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: rs587782607
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Scientific Reports
Zaki, Mark M MM; Mashouf, Leila A LA; Woodward, Eleanor E; Langat, Pinky P; Gupta, Saksham S; Dunn, Ian F IF; Wen, Patrick Y PY; Nahed, Brian V BV; Bi, Wenya Linda WL
Publication Date: 2021-09-09

Variant appearance in text: PTEN: W274*
PubMed Link: 34504233
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97454.pdf
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: 822G>A; W274*
PubMed Link: 33828082
Variant Present in the following documents:
  • 41419_2021_3657_MOESM15_ESM.pdf
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: PTEN: 822G>A; W274*
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
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: W274*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: PTEN: 822G>A; W274*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: W274*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: PTEN: W274X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: PTEN: W274*
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: PTEN: 822G>A; Trp274*
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: PTEN: 822G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..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: W274*
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: 822G>A; W274*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



In Vivo ERK1/2 Reporter Predictively Models Response and Resistance to Combined BRAF and MEK Inhibitors in Melanoma.

Molecular Cancer Therapeutics
Sanchez, Ileine M IM; Purwin, Timothy J TJ; Chervoneva, Inna I; Erkes, Dan A DA; Nguyen, Mai Q MQ; Davies, Michael A MA; Nathanson, Katherine L KL; Kemper, Kristel K; Peeper, Daniel S DS; Aplin, Andrew E AE
Publication Date: 2019-09

Variant appearance in text: PTEN: W274X
PubMed Link: 31270153
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: PTEN: W274*
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj
Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M
Publication Date: 2019

Variant appearance in text: PTEN: W274*
PubMed Link: 30828495
Variant Present in the following documents:
  • peerj-07-6501-s001.xlsx, sheet 9
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: 822G>A; W274*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
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: PTEN: 822G>A; W274*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: PTEN: 822G>A; W274*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: PTEN: 822G>A; W274*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s003.xlsx, sheet 1
  • pone.0170843.s004.xlsx, sheet 1
View BVdb publication page



Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences
Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH
Publication Date: 2016

Variant appearance in text: PTEN: W274X
PubMed Link: 27994516
Variant Present in the following documents:
  • ijbsv12p1523s1.xls, sheet 1
  • ijbsv12p1523s2.pdf
View BVdb publication page



Enhancing the evaluation of PI3K inhibitors through 3D melanoma models.

Pigment Cell & Melanoma Research
Shannan, Batool B; Chen, Quan Q; Watters, Andrea A; Perego, Michela M; Krepler, Clemens C; Thombre, Rakhee R; Li, Ling L; Rajan, Geena G; Peterson, Scott S; Gimotty, Phyllis A PA; Wilson, Melissa M; Nathanson, Katherine L KL; Gangadhar, Tara C TC; Schuchter, Lynn M LM; Weeraratna, Ashani T AT; Herlyn, Meenhard M; Vultur, Adina A
Publication Date: 2016-05

Variant appearance in text: PTEN: W274X
PubMed Link: 26850518
Variant Present in the following documents:
  • Main text
View BVdb publication page



The leukemia inhibitory factor (LIF) and p21 mediate the TGFβ tumor suppressive effects in human cutaneous melanoma.

Bmc Cancer
Humbert, Laure L; Ghozlan, Mostafa M; Canaff, Lucie L; Tian, Jun J; Lebrun, Jean-Jacques JJ
Publication Date: 2015-03-29

Variant appearance in text: PTEN: W274X
PubMed Link: 25885043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Astroblastoma: beside being a tumor entity, an occasional phenotype of astrocytic gliomas?

Oncotargets And Therapy
Mellai, Marta M; Piazzi, Angela A; Casalone, Cristina C; Grifoni, Silvia S; Melcarne, Antonio A; Annovazzi, Laura L; Cassoni, Paola P; Denysenko, Tetyana T; Valentini, Maria Consuelo MC; Cistaro, Angelina A; Schiffer, Davide D
Publication Date: 2015

Variant appearance in text: PTEN: 822G>A; Trp274*
PubMed Link: 25737639
Variant Present in the following documents:
  • Main text
  • ott-8-451.pdf
View BVdb publication page



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: W274*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



A majority of human melanoma cell lines exhibits an S phase-specific defect in excision of UV-induced DNA photoproducts.

Plos One
Bélanger, François F; Rajotte, Vincent V; Drobetsky, Elliot A EA
Publication Date: 2014

Variant appearance in text: PTEN: W274X
PubMed Link: 24416382
Variant Present in the following documents:
  • pone.0085294.s004.pdf
View BVdb publication page



High accuracy mutation detection in leukemia on a selected panel of cancer genes.

Plos One
Kalender Atak, Zeynep Z; De Keersmaecker, Kim K; Gianfelici, Valentina V; Geerdens, Ellen E; Vandepoel, Roel R; Pauwels, Daphnie D; Porcu, Michaël M; Lahortiga, Idoya I; Brys, Vanessa V; Dirks, Willy G WG; Quentmeier, Hilmar H; Cloos, Jacqueline J; Cuppens, Harry H; Uyttebroeck, Anne A; Vandenberghe, Peter P; Cools, Jan J; Aerts, Stein S
Publication Date: 2012

Variant appearance in text: PTEN: W274X
PubMed Link: 22675565
Variant Present in the following documents:
  • pone.0038463.s007.xlsx, sheet 1
View BVdb publication page



A switch in RND3-RHOA signaling is critical for melanoma cell invasion following mutant-BRAF inhibition.

Molecular Cancer
Klein, R Matthew RM; Higgins, Paul J PJ
Publication Date: 2011-09-14

Variant appearance in text: PTEN: W274X
PubMed Link: 21917148
Variant Present in the following documents:
  • Main text
  • 1476-4598-10-114.pdf
View BVdb publication page