PTEN c.138C>G ;(p.Y46*)

Variant ID: 10-89653840-C-G

NM_000314.4(PTEN):c.138C>G;(p.Y46*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: PTEN: Tyr46Ter
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, sheet 1
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: Y46*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 13
View BVdb publication page



Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports
Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL
Publication Date: 2021-01-12

Variant appearance in text: PTEN: Y46X
PubMed Link: 33436855
Variant Present in the following documents:
  • 41598_2020_80613_MOESM1_ESM.pdf
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: Y46*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: Y46*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Molecular And Clinical Oncology
Yotsumoto, Yuka Y; Harada, Atsuko A; Tsugawa, Jiro J; Ikura, Yoshihiro Y; Utsunomiya, Hidetsuna H; Miyatake, Satoko S; Matsumoto, Naomichi N; Kanemura, Yonehiro Y; Hashimoto-Tamaoki, Tomoko T
Publication Date: 2020-04

Variant appearance in text: PTEN: Y46*
PubMed Link: 32190315
Variant Present in the following documents:
  • mco-12-04-0329.pdf
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: Y46*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: PTEN: Y46*
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PTEN: Y46*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Oncotarget
Wing, Michele R MR; Reeser, Julie W JW; Smith, Amy M AM; Reeder, Matthew M; Martin, Dorrelyn D; Jewell, Benjamin M BM; Datta, Jharna J; Miya, Jharna J; Monk, J Paul JP; Mortazavi, Amir A; Otterson, Gregory A GA; Goldberg, Richard M RM; VanDeusen, Jeffrey B JB; Cole, Sharon S; Dittmar, Kristin K; Jaiswal, Sunny S; Kinzie, Matthew M; Waikhom, Suraj S; Freud, Aharon G AG; Zhou, Xiao-Ping XP; Chen, Wei W; Bhatt, Darshna D; Roychowdhury, Sameek S
Publication Date: 2017-09-29

Variant appearance in text: PTEN: 138C>G; Tyr46Ter
PubMed Link: 29100271
Variant Present in the following documents:
  • oncotarget-08-75822-s008.xlsx, sheet 1
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: 138C>G; Y46*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

Plos One
Vaca-Paniagua, Felipe F; Alvarez-Gomez, Rosa María RM; Maldonado-Martínez, Hector Aquiles HA; Pérez-Plasencia, Carlos C; Fragoso-Ontiveros, Veronica V; Lasa-Gonsebatt, Federico F; Herrera, Luis Alonso LA; Cantú, David D; Bargallo-Rocha, Enrique E; Mohar, Alejandro A; Durand, Geoffroy G; Forey, Nathalie N; Voegele, Catherine C; Vallée, Maxime M; Le Calvez-Kelm, Florence F; McKay, James J; Ardin, Maude M; Villar, Stéphanie S; Zavadil, Jiri J; Olivier, Magali M
Publication Date: 2015

Variant appearance in text: PTEN: Y46X
PubMed Link: 25961742
Variant Present in the following documents:
  • pone.0126762.s015.xlsx, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: PTEN: Y46X
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
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: Y46*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Mutational profiling of kinases in glioblastoma.

Bmc Cancer
Bleeker, Fonnet E FE; Lamba, Simona S; Zanon, Carlo C; Molenaar, Remco J RJ; Hulsebos, Theo J M TJ; Troost, Dirk D; van Tilborg, Angela A AA; Vandertop, W Peter WP; Leenstra, Sieger S; van Noorden, Cornelis J F CJ; Bardelli, Alberto A
Publication Date: 2014-09-26

Variant appearance in text: PTEN: Y46*
PubMed Link: 25256166
Variant Present in the following documents:
  • Main text
View BVdb publication page