PTEN c.182A>G ;(p.H61R)

Variant ID: 10-89685287-A-G

NM_000314.4(PTEN):c.182A>G;(p.H61R)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PTEN: H61R
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: PTEN: His61Arg
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



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: H61R
PubMed Link: 36561320
Variant Present in the following documents:
  • Main text
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
  • fgene-13-1071352.pdf
View BVdb publication page



Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

British Journal Of Cancer
Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R
Publication Date: 2022-12-22

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 36550207
Variant Present in the following documents:
  • Main text
  • 41416_2022_2102_MOESM6_ESM.xlsx, sheet 1
  • 41416_2022_2102_MOESM5_ESM.xlsx, sheet 1
  • 41416_2022_Article_2102.pdf
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: PTEN: 182A>G; H61R
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



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: H61R
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The 5-Hydroxymethylcytosine Landscape of Prostate Cancer.

Cancer Research
Sjöström, Martin M; Zhao, Shuang G SG; Levy, Samuel S; Zhang, Meng M; Ning, Yuhong Y; Shrestha, Raunak R; Lundberg, Arian A; Herberts, Cameron C; Foye, Adam A; Aggarwal, Rahul R; Hua, Junjie T JT; Li, Haolong H; Bergamaschi, Anna A; Maurice-Dror, Corinne C; Maheshwari, Ashutosh A; Chen, Sujun S; Ng, Sarah W S SWS; Ye, Wenbin W; Petricca, Jessica J; Fraser, Michael M; Chesner, Lisa L; Perry, Marc D MD; Moreno-Rodriguez, Thaidy T; Chen, William S WS; Alumkal, Joshi J JJ; Chou, Jonathan J; Morgans, Alicia K AK; Beer, Tomasz M TM; Thomas, George V GV; Gleave, Martin M; Lloyd, Paul P; Phillips, Tierney T; McCarthy, Erin E; Haffner, Michael C MC; Zoubeidi, Amina A; Annala, Matti M; Reiter, Robert E RE; Rettig, Matthew B MB; Witte, Owen N ON; Fong, Lawrence L; Bose, Rohit R; Huang, Franklin W FW; Luo, Jianhua J; Bjartell, Anders A; Lang, Joshua M JM; Mahajan, Nupam P NP; Lara, Primo N PN; Evans, Christopher P CP; Tran, Phuoc T PT; Posadas, Edwin M EM; He, Chuan C; Cui, Xiao-Long XL; Huang, Jiaoti J; Zwart, Wilbert W; Gilbert, Luke A LA; Maher, Christopher A CA; Boutros, Paul C PC; Chi, Kim N KN; Ashworth, Alan A; Small, Eric J EJ; He, Housheng H HH; Wyatt, Alexander W AW; Quigley, David A DA; Feng, Felix Y FY
Publication Date: 2022-11-02

Variant appearance in text: PTEN: H61R
PubMed Link: 36251389
Variant Present in the following documents:
  • can-22-1123_supplementary_table_3_suppst3.xlsx, sheet 2
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PTEN: H61R
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.

Nature Communications
Rosen, Ezra Y EY; Won, Helen H HH; Zheng, Youyun Y; Cocco, Emiliano E; Selcuklu, Duygu D; Gong, Yixiao Y; Friedman, Noah D ND; de Bruijn, Ino I; Sumer, Onur O; Bielski, Craig M CM; Savin, Casey C; Bourque, Caitlin C; Falcon, Christina C; Clarke, Nikeysha N; Jing, Xiaohong X; Meng, Fanli F; Zimel, Catherine C; Shifman, Sophie S; Kittane, Srushti S; Wu, Fan F; Ladanyi, Marc M; Ebata, Kevin K; Kherani, Jennifer J; Brandhuber, Barbara J BJ; Fagin, James J; Sherman, Eric J EJ; Rekhtman, Natasha N; Berger, Michael F MF; Scaltriti, Maurizio M; Hyman, David M DM; Taylor, Barry S BS; Drilon, Alexander A
Publication Date: 2022-03-18

Variant appearance in text: PTEN: H61R
PubMed Link: 35304457
Variant Present in the following documents:
  • 41467_2022_28848_MOESM1_ESM.pdf
View BVdb publication page



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: rs398123316
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



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: rs398123316
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.

Neuro-Oncology Advances
van de Geer, Wesley S WS; Hoogstrate, Youri Y; Draaisma, Kaspar K; Robe, Pierre A PA; Bins, Sander S; Mathijssen, Ron H J RHJ; French, Pim P; van de Werken, Harmen J G HJG; de Vos, Filip Y F FYF
Publication Date: 2022

Variant appearance in text: PTEN: His61Arg
PubMed Link: 35047820
Variant Present in the following documents:
  • vdab177_suppl_supplementary_data.xlsx, sheet 6
View BVdb publication page



Pan-Genomic Sequencing Reveals Actionable CDKN2A/2B Deletions and Kataegis in Anaplastic Thyroid Carcinoma.

Cancers
Stenman, Adam A; Yang, Minjun M; Paulsson, Johan O JO; Zedenius, Jan J; Paulsson, Kajsa K; Juhlin, C Christofer CC
Publication Date: 2021-12-17

Variant appearance in text: PTEN: 182A>G
PubMed Link: 34944959
Variant Present in the following documents:
  • cancers-13-06340.pdf
View BVdb publication page



Pan-Genomic Sequencing Reveals Actionable CDKN2A/2B Deletions and Kataegis in Anaplastic Thyroid Carcinoma.

Cancers
Stenman, Adam A; Yang, Minjun M; Paulsson, Johan O JO; Zedenius, Jan J; Paulsson, Kajsa K; Juhlin, C Christofer CC
Publication Date: 2021-12-17

Variant appearance in text: PTEN: 182A>G
PubMed Link: 34944959
Variant Present in the following documents:
  • cancers-13-06340.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PTEN: 182A>G; H61R
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



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: H61R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: PTEN: H61R
PubMed Link: 34373545
Variant Present in the following documents:
  • 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs398123316
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



Establishment and characterization of a novel treatment-related neuroendocrine prostate cancer cell line KUCaP13.

Cancer Science
Okasho, Kosuke K; Mizuno, Kei K; Fukui, Tomohiro T; Lin, Yen-Yi YY; Kamiyama, Yuki Y; Sunada, Takuro T; Li, Xin X; Kimura, Hiroko H; Sumiyoshi, Takayuki T; Goto, Takayuki T; Kobayashi, Takashi T; Lin, Dong D; Wang, Yuzhuo Y; Collins, Colin C CC; Inoue, Takahiro T; Ogawa, Osamu O; Akamatsu, Shusuke S
Publication Date: 2021-07

Variant appearance in text: PTEN: H61R
PubMed Link: 33960594
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 33828082
Variant Present in the following documents:
  • 41419_2021_3657_MOESM15_ESM.pdf
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



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: H61R
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



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: rs398123316
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA.

Journal Of Clinical Medicine
Chang, Won Jin WJ; Sung, Jae Sook JS; Lee, Sung Yong SY; Kang, Eun Joo EJ; Kwon, Nak-Jung NJ; Kim, Hae Mi HM; Shin, Sang Won SW; Choi, Jung Yoon JY; Choi, Yoon Ji YJ; Kim, Ju Won JW; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2020-08-14

Variant appearance in text: PTEN: H61R
PubMed Link: 32823871
Variant Present in the following documents:
  • Main text
  • jcm-09-02642.pdf
  • jcm-09-02642-s001.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: H61R
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Comparison of Somatic Mutation Profiles Between Formalin-Fixed Paraffin Embedded Tissues and Plasma Cell-Free DNA from Ovarian Cancer Patients Before and After Surgery.

Bioresearch Open Access
Jagelkova, Marianna M; Zelinova, Katarina K; Laucekova, Zuzana Z; Bobrovska, Martina M; Dankova, Zuzana Z; Grendar, Marian M; Dokus, Karol K
Publication Date: 2020

Variant appearance in text: PTEN: 182A>G
PubMed Link: 32219013
Variant Present in the following documents:
  • biores.2019.0031.pdf
View BVdb publication page



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: H61R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: rs398123316
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PTEN: 182A>G; H61R
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: PTEN: His61Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PTEN: H61R
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
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Multiplex assessment of protein variant abundance by massively parallel sequencing.

Nature Genetics
Matreyek, Kenneth A KA; Starita, Lea M LM; Stephany, Jason J JJ; Martin, Beth B; Chiasson, Melissa A MA; Gray, Vanessa E VE; Kircher, Martin M; Khechaduri, Arineh A; Dines, Jennifer N JN; Hause, Ronald J RJ; Bhatia, Smita S; Evans, William E WE; Relling, Mary V MV; Yang, Wenjian W; Shendure, Jay J; Fowler, Douglas M DM
Publication Date: 2018-06

Variant appearance in text: PTEN: His61Arg
PubMed Link: 29785012
Variant Present in the following documents:
  • Main text
  • nihms956040.pdf
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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: 182A>G; His61Arg
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



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: 182A>G; H61R
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Genotyping of Non-Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes.

Neoplasia (New York, N.Y.)
Tafe, Laura J LJ; Pierce, Kirsten J KJ; Peterson, Jason D JD; de Abreu, Francine F; Memoli, Vincent A VA; Black, Candice C CC; Pettus, Jason R JR; Marotti, Jonathan D JD; Gutmann, Edward J EJ; Liu, Xiaoying X; Shirai, Keisuke K; Dragnev, Konstantin H KH; Amos, Christopher I CI; Tsongalis, Gregory J GJ
Publication Date: 2016-09

Variant appearance in text: PTEN: H61R
PubMed Link: 27659017
Variant Present in the following documents:
  • Main text
View BVdb publication page



One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Plos One
Mingo, Janire J; Erramuzpe, Asier A; Luna, Sandra S; Aurtenetxe, Olaia O; Amo, Laura L; Diez, Ibai I; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Cortés, Jesús M JM; Pulido, Rafael R
Publication Date: 2016

Variant appearance in text: PTEN: H61R
PubMed Link: 27548698
Variant Present in the following documents:
  • Main text
  • pone.0160972.pdf
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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 182A>G; H61R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: H61R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PTEN: H61R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C
Publication Date: 2014-06-10

Variant appearance in text: PTEN: 182A>G; His61Arg
PubMed Link: 24778394
Variant Present in the following documents:
  • Main text
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: H61R
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 3
  • pone.0077945.s001.xls, sheet 2
View BVdb publication page



Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.

Nature Genetics
Peifer, Martin M; Fernández-Cuesta, Lynnette L; Sos, Martin L ML; George, Julie J; Seidel, Danila D; Kasper, Lawryn H LH; Plenker, Dennis D; Leenders, Frauke F; Sun, Ruping R; Zander, Thomas T; Menon, Roopika R; Koker, Mirjam M; Dahmen, Ilona I; Müller, Christian C; Di Cerbo, Vincenzo V; Schildhaus, Hans-Ulrich HU; Altmüller, Janine J; Baessmann, Ingelore I; Becker, Christian C; de Wilde, Bram B; Vandesompele, Jo J; Böhm, Diana D; Ansén, Sascha S; Gabler, Franziska F; Wilkening, Ines I; Heynck, Stefanie S; Heuckmann, Johannes M JM; Lu, Xin X; Carter, Scott L SL; Cibulskis, Kristian K; Banerji, Shantanu S; Getz, Gad G; Park, Kwon-Sik KS; Rauh, Daniel D; Grütter, Christian C; Fischer, Matthias M; Pasqualucci, Laura L; Wright, Gavin G; Wainer, Zoe Z; Russell, Prudence P; Petersen, Iver I; Chen, Yuan Y; Stoelben, Erich E; Ludwig, Corinna C; Schnabel, Philipp P; Hoffmann, Hans H; Muley, Thomas T; Brockmann, Michael M; Engel-Riedel, Walburga W; Muscarella, Lucia A LA; Fazio, Vito M VM; Groen, Harry H; Timens, Wim W; Sietsma, Hannie H; Thunnissen, Erik E; Smit, Egbert E; Heideman, Daniëlle A M DA; Snijders, Peter J F PJ; Cappuzzo, Federico F; Ligorio, Claudia C; Damiani, Stefania S; Field, John J; Solberg, Steinar S; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Sänger, Jörg J; Clement, Joachim H JH; Soltermann, Alex A; Moch, Holger H; Weder, Walter W; Solomon, Benjamin B; Soria, Jean-Charles JC; Validire, Pierre P; Besse, Benjamin B; Brambilla, Elisabeth E; Brambilla, Christian C; Lantuejoul, Sylvie S; Lorimier, Philippe P; Schneider, Peter M PM; Hallek, Michael M; Pao, William W; Meyerson, Matthew M; Sage, Julien J; Shendure, Jay J; Schneider, Robert R; Büttner, Reinhard R; Wolf, Jürgen J; Nürnberg, Peter P; Perner, Sven S; Heukamp, Lukas C LC; Brindle, Paul K PK; Haas, Stefan S; Thomas, Roman K RK
Publication Date: 2012-10

Variant appearance in text: PTEN: His61Arg
PubMed Link: 22941188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.

Plos One
Lovly, Christine M CM; Dahlman, Kimberly Brown KB; Fohn, Laurel E LE; Su, Zengliu Z; Dias-Santagata, Dora D; Hicks, Donna J DJ; Hucks, Donald D; Berry, Elizabeth E; Terry, Charles C; Duke, MarKeesa M; Su, Yingjun Y; Sobolik-Delmaire, Tammy T; Richmond, Ann A; Kelley, Mark C MC; Vnencak-Jones, Cindy L CL; Iafrate, A John AJ; Sosman, Jeffrey J; Pao, William W
Publication Date: 2012

Variant appearance in text: PTEN: 182A>G
PubMed Link: 22536370
Variant Present in the following documents:
View BVdb publication page



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: H61R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Gastroenterology
Heald, Brandie B; Mester, Jessica J; Rybicki, Lisa L; Orloff, Mohammed S MS; Burke, Carol A CA; Eng, Charis C
Publication Date: 2010-12

Variant appearance in text: PTEN: H61R
PubMed Link: 20600018
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: H61R
PubMed Link: 11875759
Variant Present in the following documents:
  • Main text
View BVdb publication page