Publications:

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: PTEN: Y65C

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: PTEN: 194A>G; Y65C

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: PTEN: Y65C

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications

Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K

Publication Date: 2020-04-29

Variant appearance in text: PTEN: Y65C

PubMed Link: 32350270

Variant Present in the following documents:

• Main text

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PTEN: Y65C

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

American Journal Of Human Genetics

Smith, Iris Nira IN; Thacker, Stetson S; Seyfi, Marilyn M; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2019-05-02

Variant appearance in text: PTEN: 194A>G; Tyr65Cys

PubMed Link: 31006514

Variant Present in the following documents:

• Main text

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PTEN-opathies: from biological insights to evidence-based precision medicine.

The Journal Of Clinical Investigation

Yehia, Lamis L; Ngeow, Joanne J; Eng, Charis C

Publication Date: 2019-02-01

Variant appearance in text: PTEN: Tyr65Cys

PubMed Link: 30614812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Journal Of Biomolecular Structure & Dynamics

Smith, Iris Nira IN; Thacker, Stetson S; Jaini, Ritika R; Eng, Charis C

Publication Date: 2019-04

Variant appearance in text: PTEN: Y65C

PubMed Link: 29663862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 194A>G

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American Journal Of Medical Genetics. Part A

Vanderver, Adeline A; Tonduti, Davide D; Kahn, Ilana I; Schmidt, Johanna J; Medne, Livija L; Vento, Jodie J; Chapman, Kimberly A KA; Lanpher, Brendan B; Pearl, Phillip P; Gropman, Andrea A; Lourenco, Charles C; Bamforth, John-Steven JS; Sharpe, Cynthia C; Pineda, Mercédes M; Schallner, Jens J; Bodamer, Olaf O; Orcesi, Simona S; Oberstein, Saskia A J Lesnik SA; Sistermans, Erik A EA; Yntema, Helger G HG; Bonnemann, Carsten C; Waldman, Amy T AT; van der Knaap, Marjo S MS

Publication Date: 2014-03

Variant appearance in text: PTEN: 194A>G; Tyr65Cys

PubMed Link: 24375884

Variant Present in the following documents:

• Main text

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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: Y65C

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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Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

Human Molecular Genetics

He, Xin X; Ni, Ying Y; Wang, Yu Y; Romigh, Todd T; Eng, Charis C

Publication Date: 2011-01-01

Variant appearance in text: PTEN: Y65C

PubMed Link: 20926450

Variant Present in the following documents:

• Main text
• ddq434.pdf
• supp_ddq434_ddq434supp.pdf

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Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Human Molecular Genetics

Lobo, Glenn P GP; Waite, Kristin A KA; Planchon, Sarah M SM; Romigh, Todd T; Nassif, Najah T NT; Eng, Charis C

Publication Date: 2009-08-01

Variant appearance in text: PTEN: Y65C

PubMed Link: 19457929

Variant Present in the following documents:

• Main text
• ddp220.pdf
• ddp220_1.pdf

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