Publications:

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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: Y321X

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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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: Y321*

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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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: RB1: 963C>G; Tyr321X

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers.

Orphanet Journal Of Rare Diseases

Reinisch, Mattea M; Kuemmel, Sherko S; Breit, Elisabeth E; Theuerkauf, Ingo I; Harrach, Hakima H; Schindowski, Dorothea D; Moka, Detlef D; Bettstetter, Marcus M; Bruzas, Simona S; Chiari, Ouafaa O

Publication Date: 2021-08-16

Variant appearance in text: RB1: Y321*

PubMed Link: 34399808

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: 963C>G; Y321*

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: Y321*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer

Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US

Publication Date: 2020-12-07

Variant appearance in text: RB1: Y321X

PubMed Link: 33287735

Variant Present in the following documents:

• 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Genome Medicine

Mateo, Lidia L; Duran-Frigola, Miquel M; Gris-Oliver, Albert A; Palafox, Marta M; Scaltriti, Maurizio M; Razavi, Pedram P; Chandarlapaty, Sarat S; Arribas, Joaquin J; Bellet, Meritxell M; Serra, Violeta V; Aloy, Patrick P

Publication Date: 2020-09-09

Variant appearance in text: RB1: Y321*

PubMed Link: 32907621

Variant Present in the following documents:

• Main text
• 13073_2020_Article_774.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: RB1: Y321*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: RB1: Y321*

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

Plos One

Ayari-Jeridi, Hajer H; Moran, Kimberly K; Chebbi, Amel A; Bouguila, Hédi H; Abbes, Imen I; Charradi, Khaoula K; Benammar-Elgaaïed, Amel A; Ganguly, Arupa A

Publication Date: 2015

Variant appearance in text: RB1: 963C>G; Tyr321X

PubMed Link: 25602518

Variant Present in the following documents:

• Main text
• pone.0116615.s001.xlsx, sheet 3
• pone.0116615.s001.xlsx, sheet 4
• pone.0116615.pdf

View BVdb publication page

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Broad, Hybrid Capture-Based Next-Generation Sequencing Identifies Actionable Genomic Alterations in Lung Adenocarcinomas Otherwise Negative for Such Alterations by Other Genomic Testing Approaches.

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

Drilon, Alexander A; Wang, Lu L; Arcila, Maria E ME; Balasubramanian, Sohail S; Greenbowe, Joel R JR; Ross, Jeffrey S JS; Stephens, Phil P; Lipson, Doron D; Miller, Vincent A VA; Kris, Mark G MG; Ladanyi, Marc M; Rizvi, Naiyer A NA

Publication Date: 2015-08-15

Variant appearance in text: RB1: Y321*

PubMed Link: 25567908

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision

He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J

Publication Date: 2014

Variant appearance in text: RB1: 963C>G; Y321X

PubMed Link: 24791139

Variant Present in the following documents:

• Main text
• mv-v20-545.pdf

View BVdb publication page

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ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Nature Genetics

Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S

Publication Date: 2013-12

Variant appearance in text: RB1: Y321*

PubMed Link: 24185512

Variant Present in the following documents:

• NIHMS531250-supplement-2.xlsx, sheet 1

View BVdb publication page

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Expression ratio of CCND1 to CDKN2A mRNA predicts RB1 status of cultured cancer cell lines and clinical tumor samples.

Molecular Cancer

Mizuarai, Shinji S; Machida, Takumitsu T; Kobayashi, Tsutomu T; Komatani, Hideya H; Itadani, Hiraku H; Kotani, Hidehito H

Publication Date: 2011-03-29

Variant appearance in text: RB1: Y321*

PubMed Link: 21447152

Variant Present in the following documents:

• Main text
• 1476-4598-10-31.pdf

View BVdb publication page

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