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: 800del; Lys267fs

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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Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology

Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N

Publication Date: 2023-02-20

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36808143

Variant Present in the following documents:

• 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Unexplained mismatch repair deficiency: Case closed.

Hgg Advances

Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A

Publication Date: 2023-01-12

Variant appearance in text: PTEN: 800del

PubMed Link: 36624813

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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"Proteotranscriptomic analysis of advanced colorectal cancer patient derived organoids for drug sensitivity prediction".

Journal Of Experimental & Clinical Cancer Research : Cr

Papaccio, Federica F; García-Mico, Blanca B; Gimeno-Valiente, Francisco F; Cabeza-Segura, Manuel M; Gambardella, Valentina V; Gutiérrez-Bravo, María Fernanda MF; Alfaro-Cervelló, Clara C; Martinez-Ciarpaglini, Carolina C; Rentero-Garrido, Pilar P; Zúñiga-Trejos, Sheila S; Carbonell-Asins, Juan Antonio JA; Fleitas, Tania T; Roselló, Susana S; Huerta, Marisol M; Sánchez Del Pino, Manuel M MM; Sabater, Luís L; Roda, Desamparados D; Tarazona, Noelia N; Cervantes, Andrés A; Castillo, Josefa J

Publication Date: 2023-01-06

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36604765

Variant Present in the following documents:

• Main text
• 13046_2022_Article_2591.pdf

View BVdb publication page

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Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology

Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Cancer Research And Treatment

Kim, Moonsik M; Lee, Changseon C; Hong, Juyeon J; Kim, Juhee J; Jeong, Ji Yun JY; Park, Nora Jee-Young NJ; Kim, Ji-Eun JE; Park, Ji Young JY

Publication Date: 2022-11-25

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36470260

Variant Present in the following documents:

• crt-2022-891-Supplementary-Table-2.pdf

View BVdb publication page

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Concordance Between Recommendations From Multidisciplinary Molecular Tumor Boards and Central Consensus for Cancer Treatment in Japan.

Jama Network Open

Naito, Yoichi Y; Sunami, Kuniko K; Kage, Hidenori H; Komine, Keigo K; Amano, Toraji T; Imai, Mitsuho M; Koyama, Takafumi T; Ennishi, Daisuke D; Kanai, Masashi M; Kenmotsu, Hirotsugu H; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Watanabe, Kousuke K; Shirota, Hidekazu H; Kinoshita, Ichiro I; Yoshioka, Masashiro M; Mamesaya, Nobuaki N; Ito, Mamoru M; Kohsaka, Shinji S; Saigusa, Yusuke Y; Yamamoto, Kouji K; Hirata, Makoto M; Tsuchihara, Katsuya K; Yoshino, Takayuki T

Publication Date: 2022-12-01

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36469316

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Bmc Medical Genomics

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

Publication Date: 2022-11-04

Variant appearance in text: PTEN: 795delA; K267Rfs*9

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology

Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA

Publication Date: 2022-11

Variant appearance in text: PTEN: 800delA; Lys267fs*9

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.xlsx, sheet 1

View BVdb publication page

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Phenotypic plasticity and genetic control in colorectal cancer evolution.

Nature

Househam, Jacob J; Heide, Timon T; Cresswell, George D GD; Spiteri, Inmaculada I; Kimberley, Chris C; Zapata, Luis L; Lynn, Claire C; James, Chela C; Mossner, Maximilian M; Fernandez-Mateos, Javier J; Vinceti, Alessandro A; Baker, Ann-Marie AM; Gabbutt, Calum C; Berner, Alison A; Schmidt, Melissa M; Chen, Bingjie B; Lakatos, Eszter E; Gunasri, Vinaya V; Nichol, Daniel D; Costa, Helena H; Mitchinson, Miriam M; Ramazzotti, Daniele D; Werner, Benjamin B; Iorio, Francesco F; Jansen, Marnix M; Caravagna, Giulio G; Barnes, Chris P CP; Shibata, Darryl D; Bridgewater, John J; Rodriguez-Justo, Manuel M; Magnani, Luca L; Sottoriva, Andrea A; Graham, Trevor A TA

Publication Date: 2022-11

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 36289336

Variant Present in the following documents:

• 41586_2022_5311_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Case report: A colorectal cancer patient with microsatellite instability-high and MSH2 germline mutation failed to respond to anti-PD-1 immunotherapy.

Frontiers In Immunology

Zhang, Qun Q; Hu, Jing J; Zhang, Yaping Y; Li, Li L; Wang, Ting T; Qian, Xiaoping X

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35990637

Variant Present in the following documents:

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: PTEN: 800delA; Lys267ArgfsTer9

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: PTEN: 800delA; K267fs

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Nature Communications

Lee, Bernard C H BCH; Robinson, Philip S PS; Coorens, Tim H H THH; Yan, Helen H N HHN; Olafsson, Sigurgeir S; Lee-Six, Henry H; Sanders, Mathijs A MA; Siu, Hoi Cheong HC; Hewinson, James J; Yue, Sarah S K SSK; Tsui, Wai Yin WY; Chan, Annie S Y ASY; Chan, Anthony K W AKW; Ho, Siu Lun SL; Campbell, Peter J PJ; Martincorena, Inigo I; Buczacki, Simon J A SJA; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Stratton, Michael R MR

Publication Date: 2022-05-17

Variant appearance in text: PTEN: K267fs*9

PubMed Link: 35581206

Variant Present in the following documents:

• 41467_2022_29920_MOESM3_ESM.xlsx, sheet 7

View BVdb publication page

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Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene

Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G

Publication Date: 2022-03

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 35145232

Variant Present in the following documents:

• 41388_2022_2221_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 35002543

Variant Present in the following documents:

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: PTEN: 800del; K267Rfs*9

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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Building Personalized Cancer Therapeutics through Multi-Omics Assays and Bacteriophage-Eukaryotic Cell Interactions.

International Journal Of Molecular Sciences

Wang, Qing Q

Publication Date: 2021-09-08

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 34575870

Variant Present in the following documents:

• Main text

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: K267Rfs*9

PubMed Link: 34446716

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25417.pdf
• 41467_2021_25417_MOESM3_ESM.pdf

View BVdb publication page

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Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications

Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L

Publication Date: 2021-08-24

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 34429404

Variant Present in the following documents:

• 41467_2021_25177_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Unusual immunohistochemical "null" pattern of four mismatch repair proteins in gastric cancer: A case report.

World Journal Of Clinical Cases

Yue, Meng M; Liu, Jun-Ying JY; Liu, Yue-Ping YP

Publication Date: 2021-07-26

Variant appearance in text: PTEN: 800del; Lys267fs

PubMed Link: 34368332

Variant Present in the following documents:

• Main text
• WJCC-9-6102.pdf

View BVdb publication page

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Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

The Oncologist

Leung, Shuk On Annie SOA; Foley, Olivia O; Chapel, David D; Da Silva, Annacarolina A; Nucci, Marisa M; Muto, Michael G MG; Campos, Susana S

Publication Date: 2021-12

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 34355460

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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

Cell Death & Disease

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

Publication Date: 2021-04-07

Variant appearance in text: PTEN: 795delA; K267Rfs*9

PubMed Link: 33828082

Variant Present in the following documents:

• 41419_2021_3657_MOESM15_ESM.pdf

View BVdb publication page

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Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia

Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S

Publication Date: 2021-05

Variant appearance in text: PTEN: K267fs*9

PubMed Link: 33785863

Variant Present in the following documents:

• 41375_2021_1231_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: PTEN: 800del; K267Rfs*9

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

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: 797_797delA

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: N/A

PubMed Link: 33630025

Variant Present in the following documents:

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: PTEN: 800del; K267Rfs*9

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Targeting BET Proteins BRD2 and BRD3 in Combination with PI3K-AKT Inhibition as a Therapeutic Strategy for Ovarian Clear Cell Carcinoma.

Molecular Cancer Therapeutics

Shigeta, Shogo S; Lui, Goldie Y L GYL; Shaw, Reid R; Moser, Russell R; Gurley, Kay E KE; Durenberger, Grace G; Rosati, Rachele R; Diaz, Robert L RL; Ince, Tan A TA; Swisher, Elizabeth M EM; Grandori, Carla C; Kemp, Christopher J CJ

Publication Date: 2021-04

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 33509905

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.

Nature Communications

Lin, Yuan Y; Luo, Yingying Y; Sun, Yanxia Y; Guo, Wenjia W; Zhao, Xuan X; Xi, Yiyi Y; Ma, Yuling Y; Shao, Mingming M; Tan, Wen W; Gao, Ge G; Wu, Chen C; Lin, Dongxin D

Publication Date: 2020-11-30

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 33257699

Variant Present in the following documents:

• 41467_2020_19949_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: PTEN: 795_795delA; Lys267fs

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM7_ESM.xlsx, sheet 1
• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

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: 795delA

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

Jci Insight

Golubicki, Mariano M; Bonjoch, Laia L; Acuña-Ochoa, José G JG; Díaz-Gay, Marcos M; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Cisterna, Daniel D; Schubert, Stephanie A SA; Nielsen, Maartje M; van Wezel, Tom T; Goldberg, Yael Y; Pikarsky, Eli E; Robbio, Juan J; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Antelo, Marina M; Castellví-Bel, Sergi S

Publication Date: 2020-09-17

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 32841224

Variant Present in the following documents:

• jciinsight-5-140698-s239.pdf

View BVdb publication page

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Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia.

Blood

Albertí-Servera, Llucia L; Demeyer, Sofie S; Govaerts, Inge I; Swings, Toon T; De Bie, Jolien J; Gielen, Olga O; Brociner, Marco M; Michaux, Lucienne L; Maertens, Johan J; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Boeckx, Nancy N; Segers, Heidi H; Cools, Jan J

Publication Date: 2021-02-11

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 32812017

Variant Present in the following documents:

• Main text

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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Scientific Reports

Nanki, Yoshiko Y; Chiyoda, Tatsuyuki T; Hirasawa, Akira A; Ookubo, Aki A; Itoh, Manabu M; Ueno, Masaru M; Akahane, Tomoko T; Kameyama, Kaori K; Yamagami, Wataru W; Kataoka, Fumio F; Aoki, Daisuke D

Publication Date: 2020-07-28

Variant appearance in text: PTEN: 795delA

PubMed Link: 32724113

Variant Present in the following documents:

• 41598_2020_69488_MOESM2_ESM.xlsx, sheet 1

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: PTEN: 797delA

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics

Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A

Publication Date: 2020-07-11

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 32652986

Variant Present in the following documents:

• 12920_2020_753_MOESM1_ESM.xlsx, sheet 1
• 12920_2020_753_MOESM2_ESM.xlsx, sheet 1

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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: K267Rfs*9

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: K267Rfs*9

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: PTEN: 800delA; K267Rfs*9

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget

Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2020-04-07

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 32292574

Variant Present in the following documents:

• oncotarget-11-1244-s005.xlsx, sheet 1

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: PTEN: 800del; Lys267fs

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

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Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances

Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J

Publication Date: 2020-02

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 32133402

Variant Present in the following documents:

• aay4211_Table_S2.xlsx, sheet 1

View BVdb publication page

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NUDT7 Loss Promotes Kras CRC Development.

Cancers

Song, Jinsoo J; Park, Sujeong S; Oh, Jinjoo J; Kim, Deokha D; Ryu, Ji Hyun JH; Park, Won Cheol WC; Baek, In-Jeoung IJ; Cheng, Xi X; Lu, Xin X; Jin, Eun-Jung EJ

Publication Date: 2020-03-02

Variant appearance in text: N/A

PubMed Link: 32131398

Variant Present in the following documents:

View BVdb publication page

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Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.

Scientific Reports

Nemtsova, Marina V MV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Bure, Irina V IV; Alekseeva, Ekaterina A EA; Bykov, Igor I II; Khorobrykh, Tatiana V TV; Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Kutsev, Sergey I SI; Zaletaev, Dmitry V DV; Strelnikov, Vladimir V VV

Publication Date: 2020-01-16

Variant appearance in text: PTEN: 800delA; K267fs

PubMed Link: 31949278

Variant Present in the following documents:

• Main text
• 41598_2020_Article_57544.pdf

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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: 800delA; K267Rfs*9

PubMed Link: 31925297

Variant Present in the following documents:

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

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Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients.

Cancer Science

Nagashima, Takeshi T; Yamaguchi, Ken K; Urakami, Kenichi K; Shimoda, Yuji Y; Ohnami, Sumiko S; Ohshima, Keiichi K; Tanabe, Tomoe T; Naruoka, Akane A; Kamada, Fukumi F; Serizawa, Masakuni M; Hatakeyama, Keiichi K; Matsumura, Kenya K; Ohnami, Shumpei S; Maruyama, Koji K; Mochizuki, Tohru T; Kusuhara, Masatoshi M; Shiomi, Akio A; Ohde, Yasuhisa Y; Terashima, Masanori M; Uesaka, Katsuhiko K; Onitsuka, Tetsuro T; Nishimura, Seiichiro S; Hirashima, Yasuyuki Y; Hayashi, Nakamasa N; Kiyohara, Yoshio Y; Tsubosa, Yasuhiro Y; Katagiri, Hirohisa H; Niwakawa, Masashi M; Takahashi, Kaoru K; Kashiwagi, Hiroya H; Nakagawa, Masahiro M; Ishida, Yuji Y; Sugino, Takashi T; Takahashi, Mitsuru M; Akiyama, Yasuto Y

Publication Date: 2020-02

Variant appearance in text: N/A

PubMed Link: 31863614

Variant Present in the following documents:

View BVdb publication page

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: PTEN: 795delA

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: PTEN: 800delA; K267fs*9

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: PTEN: 795delA

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM21_ESM.xlsx, sheet 1

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: N/A

PubMed Link: 31645765

Variant Present in the following documents:

View BVdb publication page

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Detection of Three Distinct Clonal Populations Using Circulating Cell Free DNA: A Cautionary Note on the Use of Liquid Biopsy.

Jco Precision Oncology

Riedlinger, Gregory M GM; Jalloul, Nahed N; Poplin, Elizabeth E; Mehnert, Janice M JM; Groisberg, Roman R; Khiabanian, Hossein H; Ganesan, Shridar S

Publication Date: 2019

Variant appearance in text: PTEN: 800delA; K267fs*9

PubMed Link: 31588418

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing of circulating cell-free DNA in stage II-III resectable oesophageal squamous cell carcinoma patients.

Bmc Cancer

Meng, Pei P; Wei, Jiacong J; Geng, Yiqun Y; Chen, Shaobin S; Terpstra, Miente Martijn MM; Huang, Qiongyi Q; Zhang, Qian Q; Su, Zuoqing Z; Yu, Wanchun W; Su, Min M; Kok, Klaas K; van den Berg, Anke A; Gu, Jiang J

Publication Date: 2019-08-20

Variant appearance in text: PTEN: 800delA; Lys267fs

PubMed Link: 31429737

Variant Present in the following documents:

• 12885_2019_6025_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications

Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J

Publication Date: 2019-06-17

Variant appearance in text: PTEN: K267fs*9

PubMed Link: 31209238

Variant Present in the following documents:

• 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

The Journal Of Molecular Diagnostics : Jmd

He, Hua-Jun HJ; Stein, Erica V EV; Konigshofer, Yves Y; Forbes, Thomas T; Tomson, Farol L FL; Garlick, Russell R; Yamada, Emiko E; Godfrey, Tony T; Abe, Toshiya T; Tamura, Koji K; Borges, Michael M; Goggins, Michael M; Elmore, Sandra S; Gulley, Margaret L ML; Larson, Jessica L JL; Ringel, Lando L; Haynes, Brian C BC; Karlovich, Chris C; Williams, P Mickey PM; Garnett, Aaron A; Ståhlberg, Anders A; Filges, Stefan S; Sorbara, Lynn L; Young, Mathew R MR; Srivastava, Sudhir S; Cole, Kenneth D KD

Publication Date: 2019-07

Variant appearance in text: PTEN: 800delA; K267fs*9

PubMed Link: 31055023

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Plos Genetics

Schumacher, Dirk D; Andrieux, Geoffroy G; Boehnke, Karsten K; Keil, Marlen M; Silvestri, Alessandra A; Silvestrov, Maxine M; Keilholz, Ulrich U; Haybaeck, Johannes J; Erdmann, Gerrit G; Sachse, Christoph C; Templin, Markus M; Hoffmann, Jens J; Boerries, Melanie M; Schäfer, Reinhold R; Regenbrecht, Christian R A CRA

Publication Date: 2019-03

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 30925167

Variant Present in the following documents:

• pgen.1008076.s007.xlsx, sheet 1

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: PTEN: 800delA; K267Rfs

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page

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Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI.

Scientific Reports

Peng, Quan Q; Xu, Chang C; Kim, Daniel D; Lewis, Marcus M; DiCarlo, John J; Wang, Yexun Y

Publication Date: 2019-03-18

Variant appearance in text: PTEN: 800delA; K267fs*9

PubMed Link: 30886209

Variant Present in the following documents:

• 41598_2019_41215_MOESM2_ESM.xlsx, sheet 2

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: 800delA

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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Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Plos One

Liao, Xiaoyan X; Hao, Yansheng Y; Zhang, Xiaofei X; Ward, Stephen S; Houldsworth, Jane J; Polydorides, Alexandros D AD; Harpaz, Noam N

Publication Date: 2019

Variant appearance in text: PTEN: K267Rfs*9

PubMed Link: 30730996

Variant Present in the following documents:

• pone.0212142.s001.xlsx, sheet 1

View BVdb publication page

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Efficacy of liquid-based genetic diagnosis of endometrial cancer.

Cancer Science

Matsuura, Motoki M; Yamaguchi, Kiyoshi K; Tamate, Masato M; Satohisa, Seiro S; Teramoto, Mizue M; Iwasaki, Masahiro M; Sugita, Shintaro S; Hasegawa, Tadashi T; Koubo, Rika R; Takane, Kiyoko K; Ikenoue, Tsuneo T; Furukawa, Yoichi Y; Saito, Tsuyoshi T

Publication Date: 2018-12

Variant appearance in text: PTEN: 800delA

PubMed Link: 30289582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: PTEN: 797_797delA

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: PTEN: 795delA

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s005.xlsx, sheet 1

View BVdb publication page

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Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget

Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD

Publication Date: 2018-05-22

Variant appearance in text: PTEN: 795delA

PubMed Link: 29876005

Variant Present in the following documents:

• oncotarget-09-25517-s001.pdf

View BVdb publication page

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