Publications:

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Alteration in molecular properties during establishment and passaging of endometrial carcinoma patient-derived xenografts.

Scientific Reports

Imai, Toshio T; Yoshida, Hiroshi H; Machida, Yukino Y; Kuramochi, Mizuki M; Ichikawa, Hitoshi H; Kubo, Takashi T; Takahashi, Mami M; Kato, Tomoyasu T

Publication Date: 2023-05-25

Variant appearance in text: PTEN: R233*

PubMed Link: 37231035

Variant Present in the following documents:

• 41598_2023_35703_MOESM1_ESM.pdf

View BVdb publication page

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PTEN Hamartoma Syndrome in a Child Presenting With Malrotation, Panintestinal Polyps, Severe Anemia, and Protein-Losing Enteropathy.

Jpgn Reports

Stoecklein, Nicole N; Ahmed, Atif A AA; Lawson, Caitlin E CE; Attard, Thomas T

Publication Date: 2021-08

Variant appearance in text: PTEN: 697C>T; Arg233Ter

PubMed Link: 37205954

Variant Present in the following documents:

• Main text
• pg9-2-e092.pdf

View BVdb publication page

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PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic Pathology

Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B

Publication Date: 2023-04-04

Variant appearance in text: PTEN: Arg233Ter; rs121909219

PubMed Link: 37016356

Variant Present in the following documents:

• Main text
• 13000_2023_Article_1331.pdf

View BVdb publication page

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Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

The Journal Of Pathology. Clinical Research

Schraml, Peter P; Aimi, Fabio F; Zoche, Martin M; Aguilera-Garcia, Domingo D; Arnold, Fabian F; Moch, Holger H; Hottiger, Michael O MO

Publication Date: 2023-03-31

Variant appearance in text: PTEN: R233*

PubMed Link: 36999983

Variant Present in the following documents:

• CJP2-9-273-s001.xlsx, sheet 38

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: PTEN: R233X

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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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: 697C>T; R233*; rs121909219

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 9

View BVdb publication page

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Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Nature Communications

Madariaga, Ainhoa A; Garg, Swati S; Tchrakian, Nairi N; Dhani, Neesha C NC; Jimenez, Waldo W; Welch, Stephen S; MacKay, Helen H; Ethier, Josee-Lyne JL; Gilbert, Lucy L; Li, Xuan X; Rodriguez, Angela A; Chan, Lucy L; Bowering, Valerie V; Clarke, Blaise B; Zhang, Tong T; King, Ian I; Downs, Gregory G; Stockley, Tracy T; Wang, Lisa L; Udagani, Smitha S; Oza, Amit M AM; Lheureux, Stephanie S

Publication Date: 2023-03-15

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 36922497

Variant Present in the following documents:

• 41467_2023_37084_MOESM1_ESM.pdf

View BVdb publication page

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

Genome Medicine

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

Publication Date: 2023-03-13

Variant appearance in text: PTEN: R233*

PubMed Link: 36915208

Variant Present in the following documents:

• 13073_2023_1165_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PTEN: R233X

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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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: 697C>T; Arg233Ter

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: R233*

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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DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.

Frontiers In Genetics

Cui, Yunlong Y; Li, Hongfeng H; Liu, Pengfei P; Wang, Hailong H; Zhang, Zhenzhen Z; Qu, Hongzhu H; Tian, Caijuan C; Fang, Xiangdong X

Publication Date: 2022

Variant appearance in text: PTEN: 697C>T; Arg233*

PubMed Link: 36685970

Variant Present in the following documents:

• Table5.xlsx, sheet 1

View BVdb publication page

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Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation.

Diagnostics (Basel, Switzerland)

Hendrych, Michal M; Solar, Peter P; Hermanova, Marketa M; Slaby, Ondrej O; Valekova, Hana H; Vecera, Marek M; Kopkova, Alena A; Mackerle, Zdenek Z; Kazda, Tomas T; Pospisil, Petr P; Lakomy, Radek R; Chrastina, Jan J; Sana, Jiri J; Jancalek, Radim R

Publication Date: 2023-01-04

Variant appearance in text: PTEN: 697C>T; Arg233Ter

PubMed Link: 36672991

Variant Present in the following documents:

• Main text
• diagnostics-13-00181.pdf

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: PTEN: R233*

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Molecular pathways, resistance mechanisms and targeted interventions in non-small-cell lung cancer.

Molecular Biomedicine

Wang, Zixi Z; Xing, Yurou Y; Li, Bingjie B; Li, Xiaoyu X; Liu, Bin B; Wang, Yongsheng Y

Publication Date: 2022-12-12

Variant appearance in text: PTEN: R233*

PubMed Link: 36508072

Variant Present in the following documents:

• Main text
• 43556_2022_Article_107.pdf

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: R233*

PubMed Link: 36470260

Variant Present in the following documents:

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

View BVdb publication page

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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: PTEN: 697C>T; Arg233Ter

PubMed Link: 36425562

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Emerging target discovery and drug repurposing opportunities in chordoma.

Frontiers In Oncology

Freed, Daniel M DM; Sommer, Josh J; Punturi, Nindo N

Publication Date: 2022

Variant appearance in text: PTEN: R233*

PubMed Link: 36387127

Variant Present in the following documents:

• Main text
• fonc-12-1009193.pdf

View BVdb publication page

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The first Japanese case of intraductal cancer of the prostate with checkpoint kinase 2 mutation.

Asian Journal Of Urology

Hongo, Hiroshi H; Kosaka, Takeo T; Nakamura, Kohei K; Mikami, Shuji S; Nishihara, Hiroshi H; Oya, Mototsugu M

Publication Date: 2022-10

Variant appearance in text: PTEN: R233*

PubMed Link: 36381593

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: PTEN: 697C>T; Arg233*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: 697C>T; Arg233Ter; rs121909219

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: 697C>T; Arg233Ter

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.xlsx, sheet 1

View BVdb publication page

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Challenges and opportunities associated with the MD Anderson IMPACT2 randomized study in precision oncology.

Npj Precision Oncology

Vo, Henry Hiep HH; Fu, Siqing S; Hong, David S DS; Karp, Daniel D DD; Piha-Paul, Sarina S; Subbiah, Vivek V; Janku, Filip F; Naing, Aung A; Yap, Timothy A TA; Rodon, Jordi J; Ajani, Jaffer A JA; Cartwright, Carrie C; Johnson, Amber A; Song, I-Wen IW; Beck, Jennifer J; Kahle, Michael M; Nogueras-Gonzalez, Graciela M GM; Miller, Vincent V; Chao, Calvin C; Vining, David J DJ; Berry, Donald A DA; Meric-Bernstam, Funda F; Tsimberidou, Apostolia-Maria AM

Publication Date: 2022-10-27

Variant appearance in text: PTEN: R233*

PubMed Link: 36302890

Variant Present in the following documents:

• 41698_2022_317_MOESM1_ESM.pdf

View BVdb publication page

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Cancer-associated gene analysis of cervical cytology samples and liquid-based cytology significantly improve endometrial cancer diagnosis sensitivity.

Oncology Letters

Nimura, Ryo R; Kondo, Eiji E; Yoshida, Kenta K; Kubo-Kaneda, Michiko M; Nii, Masafumi M; Ikeijiri, Makoto M; Nakamura, Maki M; Imai, Hiroshi H; Okugawa, Yoshinaga Y; Nakatani, Kaname K; Ikeda, Tomoaki T

Publication Date: 2022-10

Variant appearance in text: PTEN: 697C>T; Arg233Ter

PubMed Link: 36238840

Variant Present in the following documents:

• ol-24-04-13496.pdf

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: PTEN: R233*

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2
• PATH-259-56-s006.xlsx, sheet 2

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: PTEN: 697C>T; R233*; rs121909219

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Oral cancer prediction by noninvasive genetic screening.

International Journal Of Cancer

Poell, Jos B JB; Wils, Leon J LJ; Brink, Arjen A; Dietrich, Ralf R; Krieg, Christine C; Velleuer, Eunike E; Evren, Ilkay I; Brouns, Elisabeth R ER; de Visscher, Jan G JG; Bloemena, Elisabeth E; Ylstra, Bauke B; Brakenhoff, Ruud H RH

Publication Date: 2023-01-15

Variant appearance in text: PTEN: Arg233*

PubMed Link: 36069231

Variant Present in the following documents:

• IJC-152-227-s003.pdf

View BVdb publication page

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Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology

Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S

Publication Date: 2022

Variant appearance in text: PTEN: R233*

PubMed Link: 35990641

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Life (Basel, Switzerland)

Guarnaccia, Maria M; Guarnaccia, Laura L; La Cognata, Valentina V; Navone, Stefania Elena SE; Campanella, Rolando R; Ampollini, Antonella A; Locatelli, Marco M; Miozzo, Monica M; Marfia, Giovanni G; Cavallaro, Sebastiano S

Publication Date: 2022-06-24

Variant appearance in text: PTEN: 697C>T

PubMed Link: 35888045

Variant Present in the following documents:

• Main text
• life-12-00956.pdf

View BVdb publication page

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Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances

Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D

Publication Date: 2022-09-27

Variant appearance in text: PTEN: 697C>T; R233*; rs121909219

PubMed Link: 35816682

Variant Present in the following documents:

• advancesADV2022008355-suppl2.xlsx, sheet 11

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: PTEN: 697C>T; Arg233*; rs121909219

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: R233*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Treatment Response Monitoring Using a Tumor-Informed Circulating Tumor DNA Test in an Advanced Triple-Negative Breast Cancer Patient: A Case Report.

Case Reports In Oncology

Azzi, Georges G; Krinshpun, Shifra S; Tin, Antony A; Maninder, Minu M; Malashevich, Allyson Koyen AK; Malhotra, Meenakshi M; Vega, Ruben Ruiz RR; Billings, Paul R PR; Rodriguez, Angel A; Aleshin, Alexey A

Publication Date: 2022

Variant appearance in text: PTEN: R233*

PubMed Link: 35702676

Variant Present in the following documents:

• cro-0015-0473.pdf

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The phosphatase PTEN links platelets with immune regulatory functions of mouse T follicular helper cells.

Nature Communications

Chen, Xue X; Xu, Yanyan Y; Chen, Qidi Q; Zhang, Heng H; Zeng, Yu Y; Geng, Yan Y; Shen, Lei L; Li, Fubin F; Chen, Lei L; Chen, Guo-Qiang GQ; Huang, Chuanxin C; Liu, Junling J

Publication Date: 2022-05-19

Variant appearance in text: PTEN: 697C>T; R233X

PubMed Link: 35589797

Variant Present in the following documents:

• 41467_2022_30444_MOESM2_ESM.pdf

View BVdb publication page

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Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Leukemia

Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE

Publication Date: 2022-07

Variant appearance in text: PTEN: R233X; rs121909219

PubMed Link: 35585141

Variant Present in the following documents:

• 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: PTEN: R233X

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: PTEN: 697C>T; Arg233*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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Clinical Response to Neoadjuvant Immunotherapy Combined with Targeted Therapy and Chemotherapy in Oral Squamous Cell Carcinoma: Experience in Three Patients.

Oncotargets And Therapy

Tian, Yu Y; Zhang, Lei L; Jin, Nenghao N; Wan, Zhiyi Z; Zhang, Henghui H; Zhang, Haizhong H; Zhang, Lei L

Publication Date: 2022

Variant appearance in text: PTEN: R233*

PubMed Link: 35422629

Variant Present in the following documents:

• Main text
• ott-15-353.pdf

View BVdb publication page

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Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology

Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA

Publication Date: 2022-10-03

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35395677

Variant Present in the following documents:

• noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5

View BVdb publication page

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Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances

Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM

Publication Date: 2022-11-08

Variant appearance in text: PTEN: R233*

PubMed Link: 35363872

Variant Present in the following documents:

• BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: PTEN: R233*

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Nature Communications

Serebriiskii, Ilya G IG; Pavlov, Valery V; Tricarico, Rossella R; Andrianov, Grigorii G; Nicolas, Emmanuelle E; Parker, Mitchell I MI; Newberg, Justin J; Frampton, Garrett G; Meyer, Joshua E JE; Golemis, Erica A EA

Publication Date: 2022-03-25

Variant appearance in text: PTEN: R233*

PubMed Link: 35338148

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29227.pdf

View BVdb publication page

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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases

Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,

Publication Date: 2022-02-28

Variant appearance in text: PTEN: 697C>T; Arg233*

PubMed Link: 35227301

Variant Present in the following documents:

• Main text
• 13023_2021_2079_MOESM1_ESM.pdf
• 13023_2021_Article_2079.pdf

View BVdb publication page

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DNA methylation reveals distinct cells of origin for pancreatic neuroendocrine carcinomas and pancreatic neuroendocrine tumors.

Genome Medicine

Simon, Tincy T; Riemer, Pamela P; Jarosch, Armin A; Detjen, Katharina K; Di Domenico, Annunziata A; Bormann, Felix F; Menne, Andrea A; Khouja, Slim S; Monjé, Nanna N; Childs, Liam H LH; Lenze, Dido D; Leser, Ulf U; Rossner, Florian F; Morkel, Markus M; Blüthgen, Nils N; Pavel, Marianne M; Horst, David D; Capper, David D; Marinoni, Ilaria I; Perren, Aurel A; Mamlouk, Soulafa S; Sers, Christine C

Publication Date: 2022-03-01

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35227293

Variant Present in the following documents:

• 13073_2022_1018_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer

Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J

Publication Date: 2022-02

Variant appearance in text: PTEN: Arg233Ter

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology

Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X

Publication Date: 2022

Variant appearance in text: PTEN: 697C>T; Arg233*; rs121909219

PubMed Link: 35186721

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

View BVdb publication page

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The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Bmc Cancer

Yang, Yefan Y; Ding, Ying Y; Gong, Yuxi Y; Zhao, Sha S; Li, Mingna M; Li, Xiao X; Song, Guoxin G; Zhai, Boya B; Liu, Jin J; Shao, Yang Y; Zhu, Liuqing L; Pang, Jiaohui J; Ma, Yutong Y; Ou, Qiuxiang Q; Wu, Xue X; Zhang, Zhihong Z

Publication Date: 2022-02-18

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35180847

Variant Present in the following documents:

• 12885_2022_9279_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: R233*

PubMed Link: 35165384

Variant Present in the following documents:

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

View BVdb publication page

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Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.

Cancers

Karagiannakos, Alexandros A; Adamaki, Maria M; Tsintarakis, Antonis A; Vojtesek, Borek B; Fåhraeus, Robin R; Zoumpourlis, Vassilis V; Karakostis, Konstantinos K

Publication Date: 2022-01-28

Variant appearance in text: PTEN: R233*

PubMed Link: 35158934

Variant Present in the following documents:

• Main text
• cancers-14-00664.pdf

View BVdb publication page

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Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.

Cancers

Karagiannakos, Alexandros A; Adamaki, Maria M; Tsintarakis, Antonis A; Vojtesek, Borek B; Fåhraeus, Robin R; Zoumpourlis, Vassilis V; Karakostis, Konstantinos K

Publication Date: 2022-01-28

Variant appearance in text: PTEN: R233*

PubMed Link: 35158934

Variant Present in the following documents:

• Main text
• cancers-14-00664.pdf

View BVdb publication page

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Zenocutuzumab, a HER2xHER3 Bispecific Antibody, Is Effective Therapy for Tumors Driven by NRG1 Gene Rearrangements.

Cancer Discovery

Schram, Alison M AM; Odintsov, Igor I; Espinosa-Cotton, Madelyn M; Khodos, Inna I; Sisso, Whitney J WJ; Mattar, Marissa S MS; Lui, Allan J W AJW; Vojnic, Morana M; Shameem, Sara H SH; Chauhan, Thrusha T; Torrisi, Jean J; Ford, Jim J; O'Connor, Marie N MN; Geuijen, Cecile A W CAW; Schackmann, Ron C J RCJ; Lammerts van Bueren, Jeroen J JJ; Wasserman, Ernesto E; de Stanchina, Elisa E; O'Reilly, Eileen M EM; Ladanyi, Marc M; Drilon, Alexander A; Somwar, Romel R

Publication Date: 2022-05-02

Variant appearance in text: PTEN: R233*

PubMed Link: 35135829

Variant Present in the following documents:

• Main text
• 1233.pdf

View BVdb publication page

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Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Journal Of Gynecologic Oncology

Hong, Jin Hwa JH; Cho, Hyun Woong HW; Ouh, Yung-Taek YT; Lee, Jae Kwan JK; Chun, Yikyeong Y; Gim, Jeong-An JA

Publication Date: 2022-05

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35128859

Variant Present in the following documents:

• jgo-33-e29-s002.xls, sheet 1

View BVdb publication page

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Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients.

Translational Cancer Research

Zhang, Xinxin X; Guo, Jing J; Cai, Yaping Y; Sheng, Xiugui X

Publication Date: 2020-11

Variant appearance in text: PTEN: 697C>T; rs121909219

PubMed Link: 35117297

Variant Present in the following documents:

• Main text

View BVdb publication page

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The clinical value of circulating tumor DNA detection in advanced non-small cell lung cancer.

Translational Cancer Research

Lin, Xiao X; Dong, Wentao W; Lai, Xiaojing X; Feng, Wei W; Yu, Xiaofu X; Gu, Qing Q; Wang, Chunyang C; Xiao, Wen W; Zheng, Xiao X

Publication Date: 2019-02

Variant appearance in text: PTEN: 697C>T; R233*

PubMed Link: 35116746

Variant Present in the following documents:

• Main text
• tcr-08-01-170.pdf

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: PTEN: R233*; rs121909219

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4
• 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: PTEN: R233*; rs121909219

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8
• pone.0251286.s005.xlsx, sheet 4

View BVdb publication page

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