Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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 2
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

View BVdb publication page

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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

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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

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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

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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

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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

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