Publications:

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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: PTEN: T26P

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6
• Table3.xlsx, sheet 1

View BVdb publication page

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Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine

Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2022-03-03

Variant appearance in text: PTEN: Thr26Pro

PubMed Link: 35241692

Variant Present in the following documents:

• 41525_2022_289_MOESM1_ESM.pdf

View BVdb publication page

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Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A

Publication Date: 2021

Variant appearance in text: PTEN: 76A>C; T26P

PubMed Link: 33996580

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: PTEN: T26P

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN-Haploinsufficient Lipoma Cells.

Cancers

Kirstein, Anna S AS; Augustin, Adrien A; Penke, Melanie M; Cea, Michele M; Körner, Antje A; Kiess, Wieland W; Garten, Antje A

Publication Date: 2019-10-17

Variant appearance in text: PTEN: 76A>C; T26P

PubMed Link: 31627436

Variant Present in the following documents:

• Main text
• cancers-11-01586.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: PTEN: 76A>C; T26P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: PTEN: 76A>C; T26P

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: T26P

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

View BVdb publication page

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Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing.

Cell

McFadden, David G DG; Papagiannakopoulos, Thales T; Taylor-Weiner, Amaro A; Stewart, Chip C; Carter, Scott L SL; Cibulskis, Kristian K; Bhutkar, Arjun A; McKenna, Aaron A; Dooley, Alison A; Vernon, Amanda A; Sougnez, Carrie C; Malstrom, Scott S; Heimann, Megan M; Park, Jennifer J; Chen, Frances F; Farago, Anna F AF; Dayton, Talya T; Shefler, Erica E; Gabriel, Stacey S; Getz, Gad G; Jacks, Tyler T

Publication Date: 2014-03-13

Variant appearance in text: PTEN: T26P

PubMed Link: 24630729

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mester, Jessica J; Eng, Charis C

Publication Date: 2012-09

Variant appearance in text: PTEN: 76A>C; Thr26Pro

PubMed Link: 22595938

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: T26P

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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Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

American Journal Of Human Genetics

Sarquis, Marta S MS; Agrawal, Shipra S; Shen, Lei L; Pilarski, Robert R; Zhou, Xiao-Ping XP; Eng, Charis C

Publication Date: 2006-07

Variant appearance in text: PTEN: T26P

PubMed Link: 16773562

Variant Present in the following documents:

• Main text

View BVdb publication page

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