Publications:

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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr

Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2023-05-25

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 37231433

Variant Present in the following documents:

• 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: R130*

PubMed Link: 37231035

Variant Present in the following documents:

• 41598_2023_35703_MOESM1_ESM.pdf

View BVdb publication page

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Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis.

Peerj

Congur, Irem I; Koni, Ekin E; Onat, Onur Emre OE; Tokcaer Keskin, Zeynep Z

Publication Date: 2023

Variant appearance in text: PTEN: R130*; rs121909224

PubMed Link: 37096065

Variant Present in the following documents:

• peerj-11-15250-s005.xlsx, sheet 1

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

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: 388C>T; Arg130*

PubMed Link: 36922497

Variant Present in the following documents:

• 41467_2023_37084_MOESM1_ESM.pdf

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: R130X

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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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: PTEN: 388C>T; Arg130Ter

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of BRCA Deficiency in Ovarian Cancer.

Cancers

Barbero, Giovanna G; Zuntini, Roberta R; Magini, Pamela P; Desiderio, Laura L; Bonaguro, Michela M; Perrone, Anna Myriam AM; Rubino, Daniela D; Grippa, Mina M; De Leo, Antonio A; Ceccarelli, Claudio C; Godino, Lea L; Miccoli, Sara S; Ferrari, Simona S; Santini, Donatella D; De Iaco, Pierandrea P; Zamagni, Claudio C; Innella, Giovanni G; Turchetti, Daniela D

Publication Date: 2023-02-28

Variant appearance in text: PTEN: 388C>T; Arg130Ter

PubMed Link: 36900320

Variant Present in the following documents:

• Main text
• cancers-15-01530.pdf

View BVdb publication page

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

Cancer Discovery

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

Publication Date: 2023-03-02

Variant appearance in text: PTEN: 388C>T; R130*; rs121909224

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 10

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: 388C>T; Arg130Ter

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: R130*

PubMed Link: 36808143

Variant Present in the following documents:

• Main text
• 42003_2023_Article_4519.pdf
• 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications

Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C

Publication Date: 2023-02-14

Variant appearance in text: PTEN: 388C>T; Arg130*

PubMed Link: 36788224

Variant Present in the following documents:

• 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C

Publication Date: 2023-01-17

Variant appearance in text: PTEN: R130*

PubMed Link: 36648487

Variant Present in the following documents:

• ccr-22-2903_supplementary_information_1_suppms1.pdf

View BVdb publication page

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Preclinical Models of Follicular Cell-Derived Thyroid Cancer: An Overview from Cancer Cell Lines to Mouse Models.

Endocrinology And Metabolism (Seoul, Korea)

Jeon, Min Ji MJ; Haugen, Bryan R BR

Publication Date: 2022-12

Variant appearance in text: PTEN: R130*

PubMed Link: 36604954

Variant Present in the following documents:

• enm-2022-1636.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: R130*

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1
• DataSheet_2.xlsx, sheet 2

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: rs121909224

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

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: R130*

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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: R130*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 13

View BVdb publication page

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Spatial genomics maps the structure, nature and evolution of cancer clones.

Nature

Lomakin, Artem A; Svedlund, Jessica J; Strell, Carina C; Gataric, Milana M; Shmatko, Artem A; Rukhovich, Gleb G; Park, Jun Sung JS; Ju, Young Seok YS; Dentro, Stefan S; Kleshchevnikov, Vitalii V; Vaskivskyi, Vasyl V; Li, Tong T; Bayraktar, Omer Ali OA; Pinder, Sarah S; Richardson, Andrea L AL; Santagata, Sandro S; Campbell, Peter J PJ; Russnes, Hege H; Gerstung, Moritz M; Nilsson, Mats M; Yates, Lucy R LR

Publication Date: 2022-11

Variant appearance in text: PTEN: R130*

PubMed Link: 36352222

Variant Present in the following documents:

• 41586_2022_Article_5425.pdf
• 41586_2022_5425_MOESM8_ESM.xlsx, sheet 3
• 41586_2022_5425_MOESM4_ESM.xlsx, sheet 2
• 41586_2022_5425_MOESM6_ESM.xlsx, sheet 3
• 41586_2022_5425_MOESM8_ESM.xlsx, sheet 2

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: 388C>T; R130*

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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Elucidation of genomic origin of synchronous endometrial and ovarian cancer (SEO) by genomic and microsatellite analysis.

Journal Of Gynecologic Oncology

Sakamoto, Ikuko I; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nozaki, Takahiro T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2022-10-06

Variant appearance in text: PTEN: Arg130Ter

PubMed Link: 36245225

Variant Present in the following documents:

• jgo-34-e6.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: 388C>T; R130*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Epithelial-to-Mesenchymal Transition Supports Ovarian Carcinosarcoma Tumorigenesis and Confers Sensitivity to Microtubule Targeting with Eribulin.

Cancer Research

Ho, Gwo Yaw GY; Kyran, Elizabeth L EL; Bedo, Justin J; Wakefield, Matthew J MJ; Ennis, Darren P DP; Mirza, Hasan B HB; Vandenberg, Cassandra J CJ; Lieschke, Elizabeth E; Farrell, Andrew A; Hadla, Anthony A; Lim, Ratana R; Dall, Genevieve G; Vince, James E JE; Chua, Ngee Kiat NK; Kondrashova, Olga O; Upstill-Goddard, Rosanna R; Bailey, Ulla-Maja UM; Dowson, Suzanne S; Roxburgh, Patricia P; Glasspool, Rosalind M RM; Bryson, Gareth G; Biankin, Andrew V AV; , ; Cooke, Susanna L SL; Ratnayake, Gayanie G; McNally, Orla O; Traficante, Nadia N; , ; DeFazio, Anna A; Weroha, S John SJ; Bowtell, David D DD; McNeish, Iain A IA; Papenfuss, Anthony T AT; Scott, Clare L CL; Barker, Holly E HE

Publication Date: 2022-12-02

Variant appearance in text: PTEN: 388C>T; Arg130X

PubMed Link: 36206301

Variant Present in the following documents:

• can-21-4012_supplementary_data_suppst1-st24.xlsx, sheet 4

View BVdb publication page

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The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics

Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q

Publication Date: 2022

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 36168622

Variant Present in the following documents:

• thnov12p6160s2.xlsx, sheet 2

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: 388C>T; R130*

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: Arg130*

PubMed Link: 36069231

Variant Present in the following documents:

• IJC-152-227-s001.pdf

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: PTEN: 388C>T; Arg130*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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A progressive and refractory case of breast cancer with Cowden syndrome.

World Journal Of Surgical Oncology

Sueta, Aiko A; Takeno, Masako M; Goto-Yamaguchi, Lisa L; Tomiguchi, Mai M; Inao, Toko T; Yamamoto-Ibusuki, Mutsuko M; Yamamoto, Yutaka Y

Publication Date: 2022-09-03

Variant appearance in text: PTEN: 388C>T

PubMed Link: 36057718

Variant Present in the following documents:

• Main text
• 12957_2022_Article_2745.pdf

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: 388C>T; R130*

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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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

International Journal Of Molecular Sciences

Levchenko, Olga O; Dadali, Elena E; Bessonova, Ludmila L; Demina, Nina N; Rudenskaya, Galina G; Matyushchenko, Galina G; Markova, Tatiana T; Anisimova, Inga I; Semenova, Natalia N; Shchagina, Olga O; Ryzhkova, Oxana O; Zinchenko, Rena R; Galkina, Varvara V; Voinova, Victoria V; Nagieva, Sabina S; Lavrov, Alexander A

Publication Date: 2022-07-14

Variant appearance in text: PTEN: 388C>T; Arg130Ter

PubMed Link: 35887114

Variant Present in the following documents:

• ijms-23-07764.pdf

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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: 388C>T; Arg130Ter; rs121909224

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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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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: R130*

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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Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine

Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z

Publication Date: 2022-11

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Analytical and clinical validation of an amplicon-based next generation sequencing assay for ultrasensitive detection of circulating tumor DNA.

Plos One

Poh, Jonathan J; Ngeow, Kao Chin KC; Pek, Michelle M; Tan, Kian-Hin KH; Lim, Jing Shan JS; Chen, Hao H; Ong, Choon Kiat CK; Lim, Jing Quan JQ; Lim, Soon Thye ST; Lim, Chwee Ming CM; Goh, Boon Cher BC; Choudhury, Yukti Y

Publication Date: 2022

Variant appearance in text: PTEN: R130*

PubMed Link: 35486650

Variant Present in the following documents:

• Main text

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: 388C>T; Arg130*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

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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: 388C>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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Galvanotactic Migration of Glioblastoma and Brain Metastases Cells.

Life (Basel, Switzerland)

Lange, Falko F; Venus, Jakob J; Shams Esfand Abady, Daria D; Porath, Katrin K; Einsle, Anne A; Sellmann, Tina T; Neubert, Valentin V; Reichart, Gesine G; Linnebacher, Michael M; Köhling, Rüdiger R; Kirschstein, Timo T

Publication Date: 2022-04-14

Variant appearance in text: PTEN: R130*

PubMed Link: 35455071

Variant Present in the following documents:

• Main text
• life-12-00580.pdf

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Genomic Analysis of Tumors from Patients with Glioblastoma with Long-Term Response to Afatinib.

Oncotargets And Therapy

Owen, Scott S; Alken, Scheryll S; Alshami, Jad J; Guiot, Marie-Christine MC; Kavan, Petr P; Reardon, David A DA; Muanza, Thierry T; Gibson, Neil N; Pemberton, Karine K; Solca, Flavio F; Cseh, Agnieszka A; Saran, Frank F

Publication Date: 2022

Variant appearance in text: PTEN: 388C>T

PubMed Link: 35422631

Variant Present in the following documents:

• Main text
• ott-15-367.pdf

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: PTEN: R130*

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

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Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)

Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H

Publication Date: 2022-01

Variant appearance in text: PTEN: R130*

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 9
• bls-4-16-s005.xlsx, sheet 2
• bls-4-16-s004.pdf

View BVdb publication page

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Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine

Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I

Publication Date: 2022-03-13

Variant appearance in text: PTEN: 388C>T; Arg130Ter

PubMed Link: 35330454

Variant Present in the following documents:

• jpm-12-00453.pdf

View BVdb publication page

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Origins and Timing of Emerging Lesions in Advanced Renal Cell Carcinoma.

Molecular Cancer Research : Mcr

Wallace, Andrew A; Porten, Sima P SP; Lo, Amy A AA; Oreper, Daniel D; Lounsbury, Nicolas N; Havnar, Charles C; Pechuan-Jorge, Ximo X; Zill, Oliver A OA; Meng, Maxwell V MV

Publication Date: 2022-06-03

Variant appearance in text: PTEN: R130*

PubMed Link: 35297992

Variant Present in the following documents:

• mcr-21-0590_supplementary_figures_1-30_suppsf1-30.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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: 388C>T; Arg130*

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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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: 388C>T; Arg130*; rs121909224

PubMed Link: 35186721

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

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: R130*

PubMed Link: 35165384

Variant Present in the following documents:

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

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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: R130*

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: R130*

PubMed Link: 35158934

Variant Present in the following documents:

• Main text
• cancers-14-00664.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: 388C>T; R130*

PubMed Link: 35128859

Variant Present in the following documents:

• jgo-33-e29-s002.xls, sheet 1

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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: 388C>T; rs121909224

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: 388C>T; R130*

PubMed Link: 35116746

Variant Present in the following documents:

• Main text

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: rs121909224

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: rs121909224

PubMed Link: 35081118

Variant Present in the following documents:

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

View BVdb publication page

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PTEN: R130*

PubMed Link: 35053474

Variant Present in the following documents:

• Main text
• cancers-14-00310.pdf

View BVdb publication page

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PTEN: R130*

PubMed Link: 35053474

Variant Present in the following documents:

• Main text
• cancers-14-00310.pdf

View BVdb publication page

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The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Neuro-Oncology Advances

Marker, Daniel F DF; Agnihotri, Sameer S; Amankulor, Nduka N; Murdoch, Geoffrey H GH; Pearce, Thomas M TM

Publication Date: 2022

Variant appearance in text: PTEN: 388C>T; R130*

PubMed Link: 35047821

Variant Present in the following documents:

• vdab182_suppl_supplementary_table_s1.xlsx, sheet 1
• vdab182_suppl_supplementary_table_s1.xlsx, sheet 3

View BVdb publication page

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