Publications:

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: PTEN: 494G>T; G165V

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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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: G165V

PubMed Link: 36561320

Variant Present in the following documents:

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

View BVdb publication page

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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Nature Communications

Chan, Ada J S AJS; Engchuan, Worrawat W; Reuter, Miriam S MS; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Trost, Brett B; Nalpathamkalam, Thomas T; Negrijn, Carol C; Lamoureux, Sylvia S; Pellecchia, Giovanna G; Patel, Rohan V RV; Sung, Wilson W L WWL; MacDonald, Jeffrey R JR; Howe, Jennifer L JL; Vorstman, Jacob J; Sondheimer, Neal N; Takahashi, Nicole N; Miles, Judith H JH; Anagnostou, Evdokia E; Tammimies, Kristiina K; Zarrei, Mehdi M; Merico, Daniele D; Stavropoulos, Dimitri J DJ; Yuen, Ryan K C RKC; Fernandez, Bridget A BA; Scherer, Stephen W SW

Publication Date: 2022-10-29

Variant appearance in text: PTEN: 494G>T; G165V

PubMed Link: 36309498

Variant Present in the following documents:

• 41467_2022_34112_MOESM4_ESM.xlsx, sheet 5

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: 494G>T

PubMed Link: 34667258

Variant Present in the following documents:

• 41698_2021_232_MOESM1_ESM.pdf

View BVdb publication page

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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: G165V

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: rs786204863

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PTEN: G165V

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.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: G165V

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs786204863

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: G165V

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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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: 494G>T; G165V

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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Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: PTEN: G165V

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM12_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: 494G>T; G165V

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: Gly165Val

PubMed Link: 27489861

Variant Present in the following documents:

• oncoscience-03-149-s001.pdf

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: PTEN: 494G>T

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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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: G165V

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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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: G165V

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

View BVdb publication page

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Interplay between pVHL and mTORC1 pathways in clear-cell renal cell carcinoma.

Molecular Cancer Research : Mcr

Kucejova, Blanka B; Peña-Llopis, Samuel S; Yamasaki, Toshinari T; Sivanand, Sharanya S; Tran, Tram Anh T TA; Alexander, Shane S; Wolff, Nicholas C NC; Lotan, Yair Y; Xie, Xian-Jin XJ; Kabbani, Wareef W; Kapur, Payal P; Brugarolas, James J

Publication Date: 2011-09

Variant appearance in text: PTEN: 494G>T; G165V

PubMed Link: 21798997

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

The Journal Of Investigative Dermatology

Wang, Yun Y; Tan, Xiao Hui XH; DiGiovanna, John J JJ; Lee, Chyi-Chia Richard CC; Stern, Jere B JB; Raffeld, Mark M; Jaffe, Elaine S ES; Kraemer, Kenneth H KH

Publication Date: 2010-04

Variant appearance in text: PTEN: Gly165Val

PubMed Link: 19956187

Variant Present in the following documents:

• Main text

View BVdb publication page

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