Publications:

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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: RB1: L523X

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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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: N/A

PubMed Link: 35705558

Variant Present in the following documents:

View BVdb publication page

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Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy

Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J

Publication Date: 2022-01-26

Variant appearance in text: RB1: L523X

PubMed Link: 35078970

Variant Present in the following documents:

• 41392_2021_838_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy

Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J

Publication Date: 2022-01-26

Variant appearance in text: RB1: L523X

PubMed Link: 35078970

Variant Present in the following documents:

• 41392_2021_838_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report.

Bmc Medical Genomics

Kitamura, Junji J; Taguchi, Satoru S; Okegawa, Takatsugu T; Honda, Kazuki K; Kii, Toshihiko T; Tomida, Yoshihiro Y; Matsumoto, Ryuki R; Ninomiya, Naoki N; Masuda, Kazuki K; Nakamura, Yu Y; Yamaguchi, Tsuyoshi T; Kinjo, Manami M; Tambo, Mitsuhiro M; Isomura, Aya A; Hayashi, Akimasa A; Kamma, Hiroshi H; Higashihara, Eiji E; Shibahara, Junji J; Fukuhara, Hiroshi H

Publication Date: 2021-09-03

Variant appearance in text: RB1: L523X

PubMed Link: 34479548

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1068.pdf

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: 1568T>A; L523*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 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: N/A

PubMed Link: 33314633

Variant Present in the following documents:

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: RB1: 1568T>A; L523*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: RB1: Leu523*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: RB1: 1568T>A; Leu523*

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 5

View BVdb publication page

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Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

The Oncologist

Hirshfield, Kim M KM; Tolkunov, Denis D; Zhong, Hua H; Ali, Siraj M SM; Stein, Mark N MN; Murphy, Susan S; Vig, Hetal H; Vazquez, Alexei A; Glod, John J; Moss, Rebecca A RA; Belyi, Vladimir V; Chan, Chang S CS; Chen, Suzie S; Goodell, Lauri L; Foran, David D; Yelensky, Roman R; Palma, Norma A NA; Sun, James X JX; Miller, Vincent A VA; Stephens, Philip J PJ; Ross, Jeffrey S JS; Kaufman, Howard H; Poplin, Elizabeth E; Mehnert, Janice J; Tan, Antoinette R AR; Bertino, Joseph R JR; Aisner, Joseph J; DiPaola, Robert S RS; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S

Publication Date: 2016-11

Variant appearance in text: RB1: L523*

PubMed Link: 27566247

Variant Present in the following documents:

• supp_the2016-0049_Supplemental_Tables.pdf

View BVdb publication page

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