Publications:

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Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Genome Medicine

Nam, Yoonhee Y; Koo, Harim H; Yang, Yingxi Y; Shin, Sang S; Zhu, Zhihan Z; Kim, Donggeon D; Cho, Hee Jin HJ; Mu, Quanhua Q; Choi, Seung Won SW; Sa, Jason K JK; Seo, Yun Jee YJ; Kim, Yejin Y; Lee, Kyoungmin K; Oh, Jeong-Woo JW; Kwon, Yong-Jun YJ; Park, Woong-Yang WY; Kong, Doo-Sik DS; Seol, Ho Jun HJ; Lee, Jung-Il JI; Park, Chul-Kee CK; Lee, Hye Won HW; Yoon, Yeup Y; Wang, Jiguang J

Publication Date: 2023-03-13

Variant appearance in text: PTEN: K342N

PubMed Link: 36915208

Variant Present in the following documents:

• 13073_2023_1165_MOESM1_ESM.xlsx, sheet 2

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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: rs398123314

PubMed Link: 36561320

Variant Present in the following documents:

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

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: PTEN: K342N

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology

Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW

Publication Date: 2022-10-26

Variant appearance in text: PTEN: Lys342Asn

PubMed Link: 36287571

Variant Present in the following documents:

• PATH-259-81-s011.xlsx, sheet 2
• PATH-259-81-s009.xlsx, sheet 2

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs398123314

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs398123314

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: PTEN: K342N

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: PTEN: K342N

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Multiomics analysis of serial PARP inhibitor treated metastatic TNBC inform on rational combination therapies.

Npj Precision Oncology

Labrie, Marilyne M; Li, Allen A; Creason, Allison A; Betts, Courtney C; Keck, Jamie J; Johnson, Brett B; Sivagnanam, Shamilene S; Boniface, Christopher C; Ma, Hongli H; Blucher, Aurora A; Chang, Young Hwan YH; Chin, Koei K; Vuky, Jacqueline J; Guimaraes, Alexander R AR; Downey, Molly M; Lim, Jeong Youn JY; Gao, Lina L; Siex, Kiara K; Parmar, Swapnil S; Kolodzie, Annette A; Spellman, Paul T PT; Goecks, Jeremy J; Coussens, Lisa M LM; Corless, Christopher L CL; Bergan, Raymond R; Gray, Joe W JW; Mills, Gordon B GB; Mitri, Zahi I ZI

Publication Date: 2021-10-19

Variant appearance in text: PTEN: 1026G>C

PubMed Link: 34667258

Variant Present in the following documents:

• 41698_2021_232_MOESM1_ESM.pdf

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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: K342N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: rs398123314

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.

Nature Communications

Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW

Publication Date: 2021-07-07

Variant appearance in text: PTEN: 1026G>C; Lys342Asn; rs398123314

PubMed Link: 34234122

Variant Present in the following documents:

• 41467_2021_24348_MOESM4_ESM.xlsx, sheet 1

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: K342N

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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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PTEN: K342N

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: K342N

PubMed Link: 32350270

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15943.pdf

View BVdb publication page

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Patient-Derived Xenografts and Matched Cell Lines Identify Pharmacogenomic Vulnerabilities in Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Lazzari, Luca L; Corti, Giorgio G; Picco, Gabriele G; Isella, Claudio C; Montone, Monica M; Arcella, Pamela P; Durinikova, Erika E; Zanella, Eugenia R ER; Novara, Luca L; Barbosa, Fabiane F; Cassingena, Andrea A; Cancelliere, Carlotta C; Medico, Enzo E; Sartore-Bianchi, Andrea A; Siena, Salvatore S; Garnett, Mathew J MJ; Bertotti, Andrea A; Trusolino, Livio L; Di Nicolantonio, Federica F; Linnebacher, Michael M; Bardelli, Alberto A; Arena, Sabrina S

Publication Date: 2019-10-15

Variant appearance in text: PTEN: K342N

PubMed Link: 31375513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of p85α Alterations in Cancer.

Biomolecules

Marshall, Jeremy D S JDS; Whitecross, Dielle E DE; Mellor, Paul P; Anderson, Deborah H DH

Publication Date: 2019-01-15

Variant appearance in text: PTEN: K342N

PubMed Link: 30650664

Variant Present in the following documents:

• Main text
• biomolecules-09-00029.pdf

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Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Nature Communications

Lin, Weitao W; Yip, Yim Ling YL; Jia, Lin L; Deng, Wen W; Zheng, Hong H; Dai, Wei W; Ko, Josephine Mun Yee JMY; Lo, Kwok Wai KW; Chung, Grace Tin Yun GTY; Yip, Kevin Y KY; Lee, Sau-Dan SD; Kwan, Johnny Sheung-Him JS; Zhang, Jun J; Liu, Tengfei T; Chan, Jimmy Yu-Wai JY; Kwong, Dora Lai-Wan DL; Lee, Victor Ho-Fun VH; Nicholls, John Malcolm JM; Busson, Pierre P; Liu, Xuefeng X; Chiang, Alan Kwok Shing AKS; Hui, Kwai Fung KF; Kwok, Hin H; Cheung, Siu Tim ST; Cheung, Yuk Chun YC; Chan, Chi Keung CK; Li, Bin B; Cheung, Annie Lai-Man AL; Hau, Pok Man PM; Zhou, Yuan Y; Tsang, Chi Man CM; Middeldorp, Jaap J; Chen, Honglin H; Lung, Maria Li ML; Tsao, Sai Wah SW

Publication Date: 2018-11-07

Variant appearance in text: PTEN: 1026G>C; Lys342Asn

PubMed Link: 30405107

Variant Present in the following documents:

• 41467_2018_6889_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PTEN: K342N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PTEN: K342N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: PTEN: K342N

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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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: K342N

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.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: K342N

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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A beta version of life: p110β takes center stage.

Oncotarget

Dbouk, Hashem A HA; Backer, Jonathan M JM

Publication Date: 2010-12

Variant appearance in text: PTEN: K342N

PubMed Link: 21321382

Variant Present in the following documents:

• Main text
• oncotarget-01-729.pdf

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Protean PTEN: form and function.

American Journal Of Human Genetics

Waite, Kristin A KA; Eng, Charis C

Publication Date: 2002-04

Variant appearance in text: PTEN: K342N

PubMed Link: 11875759

Variant Present in the following documents:

• Main text

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