Publications:

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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: Y178*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 13

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: PTEN: 534T>G; Tyr178Ter

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6

View BVdb publication page

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Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: PTEN: Tyr178Ter

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: PTEN: Y178*

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.

Molecular Cancer

Haddadi, Nahal N; Lin, Yiguang Y; Travis, Glena G; Simpson, Ann M AM; Nassif, Najah T NT; McGowan, Eileen M EM

Publication Date: 2018-02-19

Variant appearance in text: PTEN: Y178X

PubMed Link: 29455665

Variant Present in the following documents:

• Main text
• 12943_2018_Article_803.pdf

View BVdb publication page

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Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience

Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N

Publication Date: 2016

Variant appearance in text: PTEN: 534T>G

PubMed Link: 27489861

Variant Present in the following documents:

• oncoscience-03-149-s001.pdf

View BVdb publication page

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Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology

Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH

Publication Date: 2017-02

Variant appearance in text: PTEN: 534T>G; Tyr178X

PubMed Link: 27477328

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Clonal status of actionable driver events and the timing of mutational processes in cancer evolution.

Science Translational Medicine

McGranahan, Nicholas N; Favero, Francesco F; de Bruin, Elza C EC; Birkbak, Nicolai Juul NJ; Szallasi, Zoltan Z; Swanton, Charles C

Publication Date: 2015-04-15

Variant appearance in text: PTEN: Y178*

PubMed Link: 25877892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience

Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ

Publication Date: 2014

Variant appearance in text: PTEN: Y178X

PubMed Link: 24744697

Variant Present in the following documents:

• Main text
• fnmol-07-00023.pdf

View BVdb publication page

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The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia

Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH

Publication Date: 2009-08

Variant appearance in text: PTEN: Y178*

PubMed Link: 19340001

Variant Present in the following documents:

• Main text
• nihms98506.pdf

View BVdb publication page

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A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

Cancer Genetics And Cytogenetics

Howe, James R JR; Chinnathambi, Sathivel S; Calva, Daniel D; Bair, Jennifer J; Pechman, Brenda B; Salamon, Agnes A; Tam, Beatrix B; Simon, László L

Publication Date: 2008-02

Variant appearance in text: PTEN: Y178X

PubMed Link: 18262054

Variant Present in the following documents:

• Main text

View BVdb publication page

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