PTEN c.723T>G ;(p.F241L)

Variant ID: 10-89717698-T-G

NM_000314.4(PTEN):c.723T>G;(p.F241L)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs17849090
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PTEN: F241L
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: PTEN: 723T>G; Phe241Leu
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: rs17849090
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: rs17849090
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

Npj Genomic Medicine
Loureiro, Livia O LO; Howe, Jennifer L JL; Reuter, Miriam S MS; Iaboni, Alana A; Calli, Kristina K; Roshandel, Delnaz D; Pritišanac, Iva I; Moses, Alan A; Forman-Kay, Julie D JD; Trost, Brett B; Zarrei, Mehdi M; Rennie, Olivia O; Lau, Lynette Y S LYS; Marshall, Christian R CR; Srivastava, Siddharth S; Godlewski, Brianna B; Buttermore, Elizabeth D ED; Sahin, Mustafa M; Hartley, Dean D; Frazier, Thomas T; Vorstman, Jacob J; Georgiades, Stelios S; Lewis, Suzanne M E SME; Szatmari, Peter P; Bradley, Clarrisa A Lisa CAL; Tabet, Anne-Claude AC; Willems, Marjolaine M; Lumbroso, Serge S; Piton, Amélie A; Lespinasse, James J; Delorme, Richard R; Bourgeron, Thomas T; Anagnostou, Evdokia E; Scherer, Stephen W SW
Publication Date: 2021-11-04

Variant appearance in text: PTEN: F241L
PubMed Link: 34737294
Variant Present in the following documents:
  • 41525_2021_254_MOESM1_ESM.pdf
View BVdb publication page



"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".

Endocrine
Tuli, Gerdi G; Munarin, Jessica J; Mussa, Alessandro A; Carli, Diana D; Gastaldi, Roberto R; Borgia, Paola P; Vigone, Maria Cristina MC; Abbate, Marco M; Ferrero, Giovanni Battista GB; De Sanctis, Luisa L
Publication Date: 2021-12

Variant appearance in text: PTEN: 723T>G; Phe241Leu
PubMed Link: 34184188
Variant Present in the following documents:
  • Main text
  • 12020_2021_Article_2805.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: PTEN: 723T>G; F241L
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: PTEN: 723T>G; F241L
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Beyond TNBC: Repositioning of Clofazimine Against a Broad Range of Wnt-Dependent Cancers.

Frontiers In Oncology
Xu, Jiabin J; Koval, Alexey A; Katanaev, Vladimir L VL
Publication Date: 2020

Variant appearance in text: PTEN: F241L
PubMed Link: 33363033
Variant Present in the following documents:
  • Main text
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: F241L
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: F241L
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
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: F241L
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM1_ESM.pdf
View BVdb publication page



Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: PTEN: Phe241Leu
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



Applied diagnostics in liver cancer. Efficient combinations of sorafenib with targeted inhibitors blocking AKT/mTOR.

Oncotarget
Llerena, Susana S; García-Díaz, Nuria N; Curiel-Olmo, Soraya S; Agraz-Doblas, Antonio A; García-Blanco, Agustín A; Pisonero, Helena H; Varela, María M; Santibáñez, Miguel M; Almaraz, Carmen C; Cereceda, Laura L; Martínez, Nerea N; Arias-Loste, María Teresa MT; Puente, Ángela Á; Martín-Ramos, Luis L; de Lope, Carlos Rodríguez CR; Castillo-Suescun, Federico F; Cagigas-Fernandez, Carmen C; Isidro, Pablo P; Lopez-López, Carlos C; Lopez-Hoyos, Marcos M; Llorca, Javier J; Agüero, Jesús J; Crespo-Facorro, Benedicto B; Varela, Ignacio I; Piris, Miguel Ángel MÁ; Crespo, Javier J; Vaqué, José Pedro JP
Publication Date: 2018-07-20

Variant appearance in text: PTEN: F241L
PubMed Link: 30112114
Variant Present in the following documents:
  • Main text
  • oncotarget-09-30869.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: F241L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget
Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y
Publication Date: 2017-08-29

Variant appearance in text: PTEN: Phe241Leu
PubMed Link: 28938622
Variant Present in the following documents:
  • oncotarget-08-59113-s005.xlsx, sheet 1
View BVdb publication page



A Platform for Designing Genome-Based Personalized Immunotherapy or Vaccine against Cancer.

Plos One
Gupta, Sudheer S; Chaudhary, Kumardeep K; Dhanda, Sandeep Kumar SK; Kumar, Rahul R; Kumar, Shailesh S; Sehgal, Manika M; Nagpal, Gandharva G; Raghava, Gajendra P S GP
Publication Date: 2016

Variant appearance in text: PTEN: F241L
PubMed Link: 27832200
Variant Present in the following documents:
  • pone.0166372.s004.xlsx, sheet 1
View BVdb publication page



Discovery of novel AKT inhibitors with enhanced anti-tumor effects in combination with the MEK inhibitor.

Plos One
Dumble, Melissa M; Crouthamel, Ming-Chih MC; Zhang, Shu-Yun SY; Schaber, Michael M; Levy, Dana D; Robell, Kimberly K; Liu, Qi Q; Figueroa, David J DJ; Minthorn, Elisabeth A EA; Seefeld, Mark A MA; Rouse, Meagan B MB; Rabindran, Sridhar K SK; Heerding, Dirk A DA; Kumar, Rakesh R
Publication Date: 2014

Variant appearance in text: PTEN: F241L
PubMed Link: 24978597
Variant Present in the following documents:
  • pone.0100880.s006.xlsx, sheet 1
View BVdb publication page



Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers.

Molecular Systems Biology
Reimand, Jüri J; Bader, Gary D GD
Publication Date: 2013

Variant appearance in text: PTEN: F241L
PubMed Link: 23340843
Variant Present in the following documents:
  • msb201268-s3.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: F241L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page