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: RB1: Q504X

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 4

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: RB1: 1510C>T; Q504*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Blood

Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A

Publication Date: 2022-10-12

Variant appearance in text: RB1: Q504X

PubMed Link: 36223594

Variant Present in the following documents:

• BLOOD_BLD-2022-017010-mmc2.xlsx, sheet 1

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: RB1: 1510C>T; Q504*

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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Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer.

Cancer Medicine

Yu, Jiangyong J; Zhao, Shuangtao S; Su, Zhe Z; Song, Chengli C; Wu, Lihong L; Wang, Jingbo J; Bi, Nan N; Wang, Lvhua L

Publication Date: 2022-06-23

Variant appearance in text: RB1: Q504X

PubMed Link: 35735600

Variant Present in the following documents:

• CAM4-12-1035.pdf

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: RB1: Q504*

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 of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.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: RB1: Q504*

PubMed Link: 35165384

Variant Present in the following documents:

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

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

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

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

View BVdb publication page

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Antiangiogenesis Combined with Immunotherapy to Treat Advanced Small-Cell Carcinoma of the Esophagus Resistant to Chemotherapy: According to the Guidance of Next-Generation Sequencing.

Oncotargets And Therapy

Jiang, Man M; Zhang, Xiaochun X

Publication Date: 2021

Variant appearance in text: RB1: 1510C>T; Gln504*

PubMed Link: 33688208

Variant Present in the following documents:

• Main text
• ott-14-1613.pdf

View BVdb publication page

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Combination of tissue and liquid biopsy molecular profiling to detect transformation to small cell lung carcinoma during osimertinib treatment.

Therapeutic Advances In Medical Oncology

Vendrell, Julie A JA; Quantin, Xavier X; Serre, Isabelle I; Solassol, Jérôme J

Publication Date: 2020

Variant appearance in text: RB1: Q504*

PubMed Link: 33414847

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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: RB1: Q504*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1
• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: RB1: Q504*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RB1: Q504*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 31925297

Variant Present in the following documents:

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

View BVdb publication page

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: RB1: 1510C>T; Q504*

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Iscience

Lau, David K DK; Mouradov, Dmitri D; Wasenang, Wiphawan W; Luk, Ian Y IY; Scott, Cameron M CM; Williams, David S DS; Yeung, Yvonne H YH; Limpaiboon, Temduang T; Iatropoulos, George F GF; Jenkins, Laura J LJ; Reehorst, Camilla M CM; Chionh, Fiona F; Nikfarjam, Mehrdad M; Croagh, Daniel D; Dhillon, Amardeep S AS; Weickhardt, Andrew J AJ; Muramatsu, Toshihide T; Saito, Yoshimasa Y; Tebbutt, Niall C NC; Sieber, Oliver M OM; Mariadason, John M JM

Publication Date: 2019-11-22

Variant appearance in text: RB1: Q504*

PubMed Link: 31731200

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: RB1: Q504*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: RB1: Q504*

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One

Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS

Publication Date: 2017

Variant appearance in text: RB1: 1510C>T; Gln504X

PubMed Link: 28575107

Variant Present in the following documents:

• Main text
• pone.0178776.pdf

View BVdb publication page

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Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics

Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y

Publication Date: 2016-04

Variant appearance in text: RB1: Q504X

PubMed Link: 27093186

Variant Present in the following documents:

• pgen.1005895.s019.xlsx, sheet 1

View BVdb publication page

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Comprehensive characterization of malignant phyllodes tumor by whole genomic and proteomic analysis: biological implications for targeted therapy opportunities.

Orphanet Journal Of Rare Diseases

Jardim, Denis L Fontes DL; Conley, Anthony A; Subbiah, Vivek V

Publication Date: 2013-07-30

Variant appearance in text: RB1: Q504*

PubMed Link: 23895135

Variant Present in the following documents:

• Main text
• 1750-1172-8-112.pdf

View BVdb publication page

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