Publications:

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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: 892C>T; Gln298Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: rs371387815

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: PTEN: Q298*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 13

View BVdb publication page

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Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Pathology Oncology Research : Por

Li, Lihong L; Song, Qianqian Q; Cao, Dandan D; Jiao, Yuchen Y; Yuan, Guangwen G; Song, Yan Y

Publication Date: 2022

Variant appearance in text: PTEN: 892C>T; Gln298Ter; rs371387815

PubMed Link: 35645619

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 2
• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: PTEN: 892C>T

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: PTEN: Q298*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: PTEN: Q298*

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: PTEN: Q298*

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs371387815

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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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: rs371387815

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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PTENα functions as an immune suppressor and promotes immune resistance in PTEN-mutant cancer.

Nature Communications

Sun, Yizhe Y; Lu, Dan D; Yin, Yue Y; Song, Jia J; Liu, Yang Y; Hao, Wenyan W; Qi, Fang F; Zhang, Guangze G; Zhang, Xin X; Liu, Liang L; Lin, Zhiqiang Z; Liang, Hui H; Zhao, Xuyang X; Jin, Yan Y; Yin, Yuxin Y

Publication Date: 2021-08-26

Variant appearance in text: PTEN: Q298*

PubMed Link: 34446716

Variant Present in the following documents:

• 41467_2021_25417_MOESM3_ESM.pdf

View BVdb publication page

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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: 892C>T; Q298*

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: PTEN: Q298*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: PTEN: Q298*

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

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Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Jci Insight

Kato, Shumei S; Okamura, Ryosuke R; Adashek, Jacob J JJ; Khalid, Noor N; Lee, Suzanna S; Nguyen, Van V; Sicklick, Jason K JK; Kurzrock, Razelle R

Publication Date: 2021-01-11

Variant appearance in text: PTEN: Q298*

PubMed Link: 33427211

Variant Present in the following documents:

• jciinsight-6-142547-s159.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.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: Q298*

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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Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine

Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M

Publication Date: 2020-11

Variant appearance in text: PTEN: 892C>T; Q298X

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: Q298X

PubMed Link: 32823871

Variant Present in the following documents:

• jcm-09-02642-s001.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: PTEN: 892C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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: Q298*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: 892C>T; Q298*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PTEN: 892C>T; Gln298*

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 10
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 11

View BVdb publication page

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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: Gln298*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of resistance mechanisms to abivertinib, a third-generation EGFR tyrosine kinase inhibitor, in patients with EGFR T790M-positive non-small cell lung cancer from a phase I trial.

Ebiomedicine

Zhang, Yi-Chen YC; Chen, Zhi-Hong ZH; Zhang, Xu-Chao XC; Xu, Chong-Rui CR; Yan, Hong-Hong HH; Xie, Zhi Z; Chuai, Shao-Kun SK; Ye, Jun-Yi JY; Han-Zhang, Han H; Zhang, Zhou Z; Bai, Xiao-Yan XY; Su, Jian J; Gan, Bin B; Yang, Jin-Ji JJ; Li, Wen-Feng WF; Tang, Wei W; Luo, Feng Roger FR; Xu, Xiao X; Wu, Yi-Long YL; Zhou, Qing Q

Publication Date: 2019-05

Variant appearance in text: PTEN: Q298*

PubMed Link: 31027916

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: PTEN: 892C>T; Gln298X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.

Jco Precision Oncology

Raj, Nitya N; Shah, Ronak R; Stadler, Zsofia Z; Mukherjee, Semanti S; Chou, Joanne J; Untch, Brian B; Li, Janet J; Kelly, Virginia V; Saltz, Leonard B LB; Mandelker, Diana D; Ladanyi, Marc M; Berger, Michael F MF; Klimstra, David S DS; Reidy-Lagunes, Diane D; Osoba, Muyinat M

Publication Date: 2018

Variant appearance in text: PTEN: Q298*

PubMed Link: 30687805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Human Mutation

Mester, Jessica L JL; Ghosh, Rajarshi R; Pesaran, Tina T; Huether, Robert R; Karam, Rachid R; Hruska, Kathleen S KS; Costa, Helio A HA; Lachlan, Katherine K; Ngeow, Joanne J; Barnholtz-Sloan, Jill J; Sesock, Kaitlin K; Hernandez, Felicia F; Zhang, Liying L; Milko, Laura L; Plon, Sharon E SE; Hegde, Madhuri M; Eng, Charis C

Publication Date: 2018-11

Variant appearance in text: PTEN: 892C>T; Q298X

PubMed Link: 30311380

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.

Plos One

Li, Guoli G; Guo, Xinwu X; Chen, Ming M; Tang, Lili L; Jiang, Hui H; Day, Julia X JX; Xie, Yueliang Y; Peng, Limin L; Xu, Xunxun X; Li, Jinliang J; Wang, Shouman S; Xiao, Zhi Z; Dai, Lizhong L; Wang, Jun J

Publication Date: 2018

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 30212483

Variant Present in the following documents:

• Main text
• pone.0203495.s001.pdf
• pone.0203495.s004.xlsx, sheet 1
• pone.0203495.pdf

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: PTEN: Q298*

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: PTEN: Q298X

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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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: Q298*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Identification of novel targetable mutations in metastatic anorectal melanoma by next-generation sequencing.

Jaad Case Reports

Cai, Emily D ED; Kim, Jinah J

Publication Date: 2017-11

Variant appearance in text: PTEN: 892C>T; Gln298Ter

PubMed Link: 29264386

Variant Present in the following documents:

• Main text

View BVdb publication page

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The microbiome in PTEN hamartoma tumor syndrome.

Endocrine-Related Cancer

Byrd, Victoria V; Getz, Ted T; Padmanabhan, Roshan R; Arora, Hans H; Eng, Charis C

Publication Date: 2018-03

Variant appearance in text: PTEN: 892C>T; Gln298Ter

PubMed Link: 29233840

Variant Present in the following documents:

• erc-25-233-t001.pdf

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: 892C>T; Gln298Ter; rs371387815

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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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: PTEN: Q298X

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: PTEN: 892C>T; Q298*

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: PTEN: 892C>T; Gln298Ter

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing reveals TP53 as a potential diagnostic biomarker in the post-treatment surveillance of head and neck cancer.

Oncotarget

van Ginkel, Joost H JH; de Leng, Wendy W J WW; de Bree, Remco R; van Es, Robert J J RJ; Willems, Stefan M SM

Publication Date: 2016-09-20

Variant appearance in text: PTEN: 892C>T

PubMed Link: 27528217

Variant Present in the following documents:

• Main text
• oncotarget-07-61575.pdf

View BVdb publication page

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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: 892C>T; Q298*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One

de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP

Publication Date: 2016

Variant appearance in text: PTEN: Q298*

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 2

View BVdb publication page

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Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform.

International Journal Of Molecular Sciences

Vanni, Irene I; Coco, Simona S; Truini, Anna A; Rusmini, Marta M; Dal Bello, Maria Giovanna MG; Alama, Angela A; Banelli, Barbara B; Mora, Marco M; Rijavec, Erika E; Barletta, Giulia G; Genova, Carlo C; Biello, Federica F; Maggioni, Claudia C; Grossi, Francesco F

Publication Date: 2015-12-03

Variant appearance in text: PTEN: 892C>T; Gln298Ter; rs371387815

PubMed Link: 26633390

Variant Present in the following documents:

• ijms-16-26129-s001.xls, sheet 3
• ijms-16-26129-s001.xls, sheet 2

View BVdb publication page

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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports

Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q

Publication Date: 2015-10-27

Variant appearance in text: PTEN: Q298X

PubMed Link: 26503331

Variant Present in the following documents:

• srep14237-s6.xls, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PTEN: 892C>T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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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: 892C>T; Gln298*

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

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Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Plos One

Churi, Chaitanya R CR; Shroff, Rachna R; Wang, Ying Y; Rashid, Asif A; Kang, HyunSeon C HC; Weatherly, Jacqueline J; Zuo, Mingxin M; Zinner, Ralph R; Hong, David D; Meric-Bernstam, Funda F; Janku, Filip F; Crane, Christopher H CH; Mishra, Lopa L; Vauthey, Jean-Nicholas JN; Wolff, Robert A RA; Mills, Gordon G; Javle, Milind M

Publication Date: 2014

Variant appearance in text: PTEN: Q298*

PubMed Link: 25536104

Variant Present in the following documents:

• pone.0115383.s001.xlsx, sheet 1

View BVdb publication page

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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: Q298*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-7.xlsx, sheet 1

View BVdb publication page

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Sensitivity to the MEK inhibitor E6201 in melanoma cells is associated with mutant BRAF and wildtype PTEN status.

Molecular Cancer

Byron, Sara A SA; Loch, David C DC; Wellens, Candice L CL; Wortmann, Andreas A; Wu, Jiayi J; Wang, John J; Nomoto, Kenichi K; Pollock, Pamela M PM

Publication Date: 2012-10-05

Variant appearance in text: PTEN: Q298X

PubMed Link: 23039341

Variant Present in the following documents:

• Main text
• 1476-4598-11-75.pdf

View BVdb publication page

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Identification of enriched driver gene alterations in subgroups of non-small cell lung cancer patients based on histology and smoking status.

Plos One

An, She-Juan SJ; Chen, Zhi-Hong ZH; Su, Jian J; Zhang, Xu-Chao XC; Zhong, Wen-Zhao WZ; Yang, Jin-Ji JJ; Zhou, Qing Q; Yang, Xue-Ning XN; Huang, Ling L; Guan, Ji-Lin JL; Nie, Qiang Q; Yan, Hong-Hong HH; Mok, Tony S TS; Wu, Yi-Long YL

Publication Date: 2012

Variant appearance in text: PTEN: Q298X

PubMed Link: 22768234

Variant Present in the following documents:

• Main text
• pone.0040109.pdf

View BVdb publication page

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