Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: PTEN: 527_529del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling of Sarcomas: A Promising Weapon in the Therapeutic Arsenal.

International Journal Of Molecular Sciences

Lopes-Brás, Raquel R; Lopez-Presa, Dolores D; Esperança-Martins, Miguel M; Melo-Alvim, Cecília C; Gallego, Lina L; Costa, Luís L; Fernandes, Isabel I

Publication Date: 2022-11-17

Variant appearance in text: PTEN: Y178del

PubMed Link: 36430703

Variant Present in the following documents:

• ijms-23-14227.pdf

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: PTEN: 526_528delTAT; Y176del

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: PTEN: 526_528del; Y176del

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: PTEN: Y176del

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

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Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Cell Death & Disease

Choi, Seung Won SW; Lee, Yeri Y; Shin, Kayoung K; Koo, Harim H; Kim, Donggeon D; Sa, Jason K JK; Cho, Hee Jin HJ; Shin, Hye-Mi HM; Lee, Se Jeong SJ; Kim, Hyunho H; Chung, Seok S; Shin, Jihye J; Lee, Cheolju C; Nam, Do-Hyun DH

Publication Date: 2021-04-07

Variant appearance in text: PTEN: 526_528delTAT; Y176del

PubMed Link: 33828082

Variant Present in the following documents:

• 41419_2021_3657_MOESM15_ESM.pdf

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PTEN: 526_528delTAT; Y176del

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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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: Y178del

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine

Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA

Publication Date: 2020-04

Variant appearance in text: PTEN: Tyr178del

PubMed Link: 32268276

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: PTEN: 526_528delTAT; Tyr176del

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: PTEN: 526_528delTAT; Y176del

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.

Plos Medicine

Nair, Navya N; Camacho-Vanegas, Olga O; Rykunov, Dmitry D; Dashkoff, Matthew M; Camacho, Sandra Catalina SC; Schumacher, Cassie A CA; Irish, Jonathan C JC; Harkins, Timothy T TT; Freeman, Elijah E; Garcia, Isaac I; Pereira, Elena E; Kendall, Sviatoslav S; Belfer, Rachel R; Kalir, Tamara T; Sebra, Robert R; Reva, Boris B; Dottino, Peter P; Martignetti, John A JA

Publication Date: 2016-12

Variant appearance in text: PTEN: Y176del

PubMed Link: 28027320

Variant Present in the following documents:

• Main text
• pmed.1002206.s015.xlsx, sheet 1
• pmed.1002206.pdf
• pmed.1002206.s017.xlsx, sheet 1
• pmed.1002206.s016.xlsx, sheet 1

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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics

Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP

Publication Date: 2013-07-15

Variant appearance in text: PTEN: 526_528del

PubMed Link: 23528559

Variant Present in the following documents:

• supp_ddt131_ddt131supp.pdf

View BVdb publication page

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