Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: PTEN: M270I

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs1195369834

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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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: rs1195369834

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: PTEN: M270I

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: PTEN: Met270Ile

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: PTEN: M270I

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences

Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK

Publication Date: 2021-04-09

Variant appearance in text: PTEN: 810G>T; Met270Ile

PubMed Link: 33918692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PTEN: M270I

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: M270I

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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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: M270I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One

Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N

Publication Date: 2019

Variant appearance in text: PTEN: 810G>T; Met270Ile

PubMed Link: 31856217

Variant Present in the following documents:

• pone.0226400.s012.xlsx, sheet 1
• pone.0226400.s010.xlsx, sheet 1
• pone.0226400.s004.xlsx, sheet 8
• pone.0226400.s004.xlsx, sheet 6

View BVdb publication page

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Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.

Yonsei Medical Journal

Lee, Yong Jae YJ; Kim, Dachan D; Kim, Hyun Soo HS; Na, Kiyong K; Lee, Jung Yun JY; Nam, Eun Ji EJ; Kim, Sang Wun SW; Kim, Sunghoon S; Kim, Young Tae YT

Publication Date: 2019-10

Variant appearance in text: PTEN: 810G>T

PubMed Link: 31538426

Variant Present in the following documents:

• Main text

View BVdb publication page

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A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One

Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND

Publication Date: 2019

Variant appearance in text: PTEN: 810G>T; M270I

PubMed Link: 31415627

Variant Present in the following documents:

• Main text
• pone.0220929.pdf

View BVdb publication page

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Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: PTEN: M270I

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Potential Mutations in Uveal Melanoma Identified Using Targeted Next-Generation Sequencing.

Journal Of Cancer

Yu, Jiayi J; Wu, Xiaowen X; Yan, Junya J; Yu, Jinyu J; Yin, Ting T; Dai, Jie J; Ma, Meng M; Xu, Tianxiao T; Yu, Huan H; Xu, Longwen L; Yang, Lu L; Cheng, Zhiyuan Z; Chi, Zhihong Z; Sheng, Xinan X; Si, Lu L; Cui, Chuanliang C; Guo, Jun J; Kong, Yan Y

Publication Date: 2019

Variant appearance in text: PTEN: M270I

PubMed Link: 30719144

Variant Present in the following documents:

• Main text
• jcav10p0488.pdf

View BVdb publication page

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Functional genomic landscape of acute myeloid leukaemia.

Nature

Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ

Publication Date: 2018-10

Variant appearance in text: PTEN: 810G>T; Met270Ile

PubMed Link: 30333627

Variant Present in the following documents:

• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: PTEN: 810G>T; Met270Ile

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 9

View BVdb publication page

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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: PTEN: M270I

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: PTEN: M270I

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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

Nature Medicine

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

Publication Date: 2014-12

Variant appearance in text: PTEN: M270I

PubMed Link: 25326804

Variant Present in the following documents:

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

View BVdb publication page

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