Publications:

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Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.

International Journal Of Molecular Sciences

Schmidt, Michael J MJ; Prabakar, Rishvanth K RK; Pike, Sarah S; Yellapantula, Venkata V; Peng, Chen-Ching CC; Kuhn, Peter P; Hicks, James J; Xu, Liya L; Berry, Jesse L JL

Publication Date: 2023-05-11

Variant appearance in text: RB1: R320*

PubMed Link: 37239954

Variant Present in the following documents:

• Main text
• ijms-24-08606.pdf

View BVdb publication page

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Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.

Nature Communications

Liu, Yanling Y; Klein, Jonathon J; Bajpai, Richa R; Dong, Li L; Tran, Quang Q; Kolekar, Pandurang P; Smith, Jenny L JL; Ries, Rhonda E RE; Huang, Benjamin J BJ; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Tian, Liqing L; Mulder, Heather L HL; Shaw, Timothy I TI; Ma, Jing J; Walsh, Michael P MP; Song, Guangchun G; Westover, Tamara T; Autry, Robert J RJ; Gout, Alexander M AM; Wheeler, David A DA; Wan, Shibiao S; Wu, Gang G; Yang, Jun J JJ; Evans, William E WE; Loh, Mignon M; Easton, John J; Zhang, Jinghui J; Klco, Jeffery M JM; Meshinchi, Soheil S; Brown, Patrick A PA; Pruett-Miller, Shondra M SM; Ma, Xiaotu X

Publication Date: 2023-04-05

Variant appearance in text: RB1: R320*

PubMed Link: 37019972

Variant Present in the following documents:

• 41467_2023_37438_MOESM1_ESM.pdf
• 41467_2023_37438_MOESM2_ESM.pdf

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: RB1: R320X

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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GA4GH Phenopackets: A Practical Introduction.

Advanced Genetics (Hoboken, N.J.)

Ladewig, Markus S MS; Jacobsen, Julius O B JOB; Wagner, Alex H AH; Danis, Daniel D; El Kassaby, Baha B; Gargano, Michael M; Groza, Tudor T; Baudis, Michael M; Steinhaus, Robin R; Seelow, Dominik D; Bechrakis, Nikolaos E NE; Mungall, Christopher J CJ; Schofield, Paul N PN; Elemento, Olivier O; Smith, Lindsay L; McMurry, Julie A JA; Munoz-Torres, Monica M; Haendel, Melissa A MA; Robinson, Peter N PN

Publication Date: 2023-03

Variant appearance in text: RB1: Arg320Ter; rs121913300

PubMed Link: 36910590

Variant Present in the following documents:

• Main text
• GGN2-4-2200016.pdf

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: RB1: 958C>T; Arg320Ter

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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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: RB1: 958C>T; Arg320Ter

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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Second hit impels oncogenesis of retinoblastoma in patient-induced pluripotent stem cell-derived retinal organoids: direct evidence for Knudson's theory.

Pnas Nexus

Li, Yan-Ping YP; Wang, Ya-Ting YT; Wang, Wen W; Zhang, Xiao X; Shen, Ren-Juan RJ; Jin, Kangxin K; Jin, Li-Wen LW; Jin, Zi-Bing ZB

Publication Date: 2022-09

Variant appearance in text: RB1: Arg320X

PubMed Link: 36714839

Variant Present in the following documents:

• Main text
• pgac162.pdf

View BVdb publication page

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Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics

Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y

Publication Date: 2022

Variant appearance in text: RB1: 958C>T; Arg320Ter; rs121913300

PubMed Link: 36685892

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

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Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Nature Communications

Light, Nicholas N; Layeghifard, Mehdi M; Attery, Ayush A; Subasri, Vallijah V; Zatzman, Matthew M; Anderson, Nathaniel D ND; Hatkar, Rupal R; Blay, Sasha S; Chen, David D; Novokmet, Ana A; Fuligni, Fabio F; Tran, James J; de Borja, Richard R; Agarwal, Himanshi H; Waldman, Larissa L; Abegglen, Lisa M LM; Albertson, Daniel D; Finlay, Jonathan L JL; Hansford, Jordan R JR; Behjati, Sam S; Villani, Anita A; Gerstung, Moritz M; Alexandrov, Ludmil B LB; Somers, Gino R GR; Schiffman, Joshua D JD; Rotter, Varda V; Malkin, David D; Shlien, Adam A

Publication Date: 2023-01-05

Variant appearance in text: RB1: R320*

PubMed Link: 36604421

Variant Present in the following documents:

• 41467_2022_35727_MOESM5_ESM.xlsx, sheet 1

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: 958C>T; R320*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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: 958C>T; R320*

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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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

International Ophthalmology

Li, Luting L; Li, Haibo H; Zhang, Jing J; Gan, Hairun H; Liu, Ruihong R; Hu, Xinyan X; Pang, Pengfei P; Li, Bing B

Publication Date: 2022-11

Variant appearance in text: RB1: Arg320*

PubMed Link: 35960463

Variant Present in the following documents:

• Main text
• 10792_2022_Article_2341.pdf

View BVdb publication page

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Single-Circulating Tumor Cell Whole Genome Amplification to Unravel Cancer Heterogeneity and Actionable Biomarkers.

International Journal Of Molecular Sciences

Khan, Tanzila T; Becker, Therese M TM; Po, Joseph W JW; Chua, Wei W; Ma, Yafeng Y

Publication Date: 2022-07-29

Variant appearance in text: RB1: R320*

PubMed Link: 35955517

Variant Present in the following documents:

• Main text
• ijms-23-08386.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: R320*

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: RB1: 958C>T; R320*

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))

Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L

Publication Date: 2022-05-10

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 35509869

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.

Stem Cells Translational Medicine

Rozanska, Agata A; Cerna-Chavez, Rodrigo R; Queen, Rachel R; Collin, Joseph J; Zerti, Darin D; Dorgau, Birthe B; Beh, Chia Shyan CS; Davey, Tracey T; Coxhead, Jonathan J; Hussain, Rafiqul R; Al-Aama, Jumana J; Steel, David H DH; Benvenisty, Nissim N; Armstrong, Lyle L; Parulekar, Manoj M; Lako, Majlinda M

Publication Date: 2022-04-29

Variant appearance in text: RB1: R320X

PubMed Link: 35325233

Variant Present in the following documents:

• Main text
• szac008.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: RB1: 958C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.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: R320*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

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: RB1: R320*

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: RB1: R320*

PubMed Link: 35158934

Variant Present in the following documents:

• Main text
• cancers-14-00664.pdf

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: rs121913300

PubMed Link: 35081118

Variant Present in the following documents:

• 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: rs121913300

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Treatment of Advanced Retinoblastoma in Children Evacuated from Low-Income Countries: Experience from a National Referral Center in Portugal.

Clinical Ophthalmology (Auckland, N.Z.)

Castela, Guilherme G; Providência, Joana J; Monteiro, Madalena M; Silva, Sónia S; Brito, Manuel M; Murta, Joaquim Neto JN; Correa, Zélia Z; Castelo Branco, Miguel M

Publication Date: 2021

Variant appearance in text: RB1: Arg320*

PubMed Link: 34992338

Variant Present in the following documents:

• Main text
• opth-15-4765.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Retinal organoids as models for development and diseases.

Cell Regeneration (London, England)

Zhang, Xiao X; Wang, Wen W; Jin, Zi-Bing ZB

Publication Date: 2021-11-01

Variant appearance in text: RB1: R320X

PubMed Link: 34719743

Variant Present in the following documents:

• Main text
• 13619_2021_Article_97.pdf

View BVdb publication page

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Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.

Cancers

Alekseeva, Ekaterina A EA; Babenko, Olga V OV; Kozlova, Valentina M VM; Ushakova, Tatiana L TL; Kazubskaya, Tatiana P TP; Nemtsova, Marina V MV; Chesnokova, Galina G GG; Mikhaylenko, Dmitry S DS; Bure, Irina V IV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Tanas, Alexander S AS; Kutsev, Sergey I SI; Zaletaev, Dmitry V DV; Strelnikov, Vladimir V VV

Publication Date: 2021-10-10

Variant appearance in text: RB1: 958C>T

PubMed Link: 34680218

Variant Present in the following documents:

• Main text
• cancers-13-05068.pdf

View BVdb publication page

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Metastatic Castration-Resistant Prostate Cancer Remains Dependent on Oncogenic Drivers Found in Primary Tumors.

Jco Precision Oncology

Einstein, David J DJ; Arai, Seiji S; Calagua, Carla C; Xie, Fang F; Voznesensky, Olga O; Capaldo, Brian J BJ; Luffman, Christina C; Hecht, Jonathan L JL; Balk, Steven P SP; Sowalsky, Adam G AG; Russo, Joshua W JW

Publication Date: 2021

Variant appearance in text: RB1: R320*

PubMed Link: 34568716

Variant Present in the following documents:

• Main text
• po-5-po.21.00059.pdf

View BVdb publication page

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Metastatic Castration-Resistant Prostate Cancer Remains Dependent on Oncogenic Drivers Found in Primary Tumors.

Jco Precision Oncology

Einstein, David J DJ; Arai, Seiji S; Calagua, Carla C; Xie, Fang F; Voznesensky, Olga O; Capaldo, Brian J BJ; Luffman, Christina C; Hecht, Jonathan L JL; Balk, Steven P SP; Sowalsky, Adam G AG; Russo, Joshua W JW

Publication Date: 2021

Variant appearance in text: RB1: R320*

PubMed Link: 34568716

Variant Present in the following documents:

• Main text
• po-5-po.21.00059.pdf

View BVdb publication page

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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications

Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F

Publication Date: 2021-09-22

Variant appearance in text: RB1: R320X

PubMed Link: 34552068

Variant Present in the following documents:

• 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3
• 41467_2021_25792_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Retinoblastoma and mosaic 13q deletion: a case report.

International Journal Of Retina And Vitreous

Gargallo, Pablo P; Oltra, Silvestre S; Balaguer, Julia J; Barranco, Honorio H; Yáñez, Yania Y; Segura, Vanessa V; Juan-Ribelles, Antonio A; Calabria, Inés I; Llavador, Margarita M; Castel, Victoria V; Cañete, Adela A

Publication Date: 2021-09-03

Variant appearance in text: RB1: 958C>T; Arg320Ter

PubMed Link: 34479642

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy

Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB

Publication Date: 2021

Variant appearance in text: RB1: 958C>T; R320X

PubMed Link: 34456592

Variant Present in the following documents:

• Main text
• rmhp-14-3453.pdf

View BVdb publication page

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Retinoblastoma genetics screening and clinical management.

Bmc Medical Genomics

Gupta, Himika H; Malaichamy, Sivasankar S; Mallipatna, Ashwin A; Murugan, Sakthivel S; Jeyabalan, Nallathambi N; Suresh Babu, Vishnu V; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Santhosh, Sam S; Seshagiri, Somasekar S; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G

Publication Date: 2021-07-22

Variant appearance in text: RB1: R320X

PubMed Link: 34294096

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1034.pdf

View BVdb publication page

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Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics

Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R

Publication Date: 2021-07-20

Variant appearance in text: RB1: 958C>T; Arg320*

PubMed Link: 34284772

Variant Present in the following documents:

• 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Molecular And Clinical Oncology

Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH

Publication Date: 2021-09

Variant appearance in text: RB1: 958C>T; Arg320Ter; rs121913300

PubMed Link: 34277001

Variant Present in the following documents:

• Main text

View BVdb publication page

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Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology

Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y

Publication Date: 2021

Variant appearance in text: RB1: 958C>T; R320*; rs121913300

PubMed Link: 34168983

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

View BVdb publication page

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Applications of Circulating Tumor DNA in a Cohort of Phase I Solid Tumor Patients Treated With Immunotherapy.

Jnci Cancer Spectrum

Araujo, Daniel V DV; Wang, Ao A; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; McCarthy, Aoife A; Berman, Hal H; Spreafico, Anna A; Hansen, Aaron R AR; Razak, Albiruni-Abdul AA; Bedard, Philippe L PL; Wang, Lisa L; Plackmann, Eric E; Chow, Helen H; Bao, Hua H; Wu, Xue X; Pugh, Trevor J TJ; Siu, Lillian L LL

Publication Date: 2021-06

Variant appearance in text: RB1: R320*

PubMed Link: 34056539

Variant Present in the following documents:

• pkaa122.pdf

View BVdb publication page

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Applications of Circulating Tumor DNA in a Cohort of Phase I Solid Tumor Patients Treated With Immunotherapy.

Jnci Cancer Spectrum

Araujo, Daniel V DV; Wang, Ao A; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; McCarthy, Aoife A; Berman, Hal H; Spreafico, Anna A; Hansen, Aaron R AR; Razak, Albiruni-Abdul AA; Bedard, Philippe L PL; Wang, Lisa L; Plackmann, Eric E; Chow, Helen H; Bao, Hua H; Wu, Xue X; Pugh, Trevor J TJ; Siu, Lillian L LL

Publication Date: 2021-06

Variant appearance in text: RB1: R320*

PubMed Link: 34056539

Variant Present in the following documents:

• pkaa122.pdf

View BVdb publication page

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Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports

Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C

Publication Date: 2021-05-24

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 34031447

Variant Present in the following documents:

• 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Modeling human retinoblastoma using embryonic stem cell-derived retinal organoids.

Star Protocols

Liu, Hui H; Hua, Zi-Qi ZQ; Jin, Zi-Bing ZB

Publication Date: 2021-06-18

Variant appearance in text: RB1: 958C>T; R320X

PubMed Link: 33899024

Variant Present in the following documents:

• Main text

View BVdb publication page

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Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.

Cancers

Xu, Liya L; Kim, Mary E ME; Polski, Ashley A; Prabakar, Rishvanth K RK; Shen, Lishuang L; Peng, Chen-Ching CC; Reid, Mark W MW; Chévez-Barrios, Patricia P; Kim, Jonathan W JW; Shah, Rachana R; Jubran, Rima R; Kuhn, Peter P; Cobrinik, David D; Biegel, Jaclyn A JA; Gai, Xiaowu X; Hicks, James J; Berry, Jesse L JL

Publication Date: 2021-03-13

Variant appearance in text: RB1: 958C>T; Arg320*

PubMed Link: 33805776

Variant Present in the following documents:

• cancers-13-01282-s001.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: RB1: R320*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision

Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P

Publication Date: 2021

Variant appearance in text: RB1: 958C>T; R320X

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.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: 958C>T; R320*

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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Human embryonic stem cell-derived organoid retinoblastoma reveals a cancerous origin.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Liu, Hui H; Zhang, Yan Y; Zhang, You-You YY; Li, Yan-Ping YP; Hua, Zi-Qi ZQ; Zhang, Chang-Jun CJ; Wu, Kun-Chao KC; Yu, Fulong F; Zhang, Yaru Y; Su, Jianzhong J; Jin, Zi-Bing ZB

Publication Date: 2020-12-29

Variant appearance in text: RB1: 958C>T; R320X

PubMed Link: 33318192

Variant Present in the following documents:

• Main text
• pnas.202011780.pdf

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: R320*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: RB1: R320*

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Journal Of Clinical Medicine

Gerrish, Amy A; Bowns, Benjamin B; Mashayamombe-Wolfgarten, Chipo C; Young, Elizabeth E; Court, Samantha S; Bott, Joshua J; McCalla, Maureen M; Ramsden, Simon S; Parks, Michael M; Goudie, David D; Carless, Sue S; Clokie, Samuel S; Cole, Trevor T; Allen, Stephanie S

Publication Date: 2020-10-30

Variant appearance in text: RB1: 958C>T

PubMed Link: 33143217

Variant Present in the following documents:

• jcm-09-03517-s001.pdf

View BVdb publication page

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Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine

Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M

Publication Date: 2020-11

Variant appearance in text: RB1: 958C>T; R320X

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Ophthalmic Genetics

Xu, Liya L; Shen, Lishuang L; Polski, Ashley A; Prabakar, Rishvanth K RK; Shah, Rachana R; Jubran, Rima R; Kim, Jonathan W JW; Biegel, Jacklyn J; Kuhn, Peter P; Cobrinik, David D; Hicks, James J; Gai, Xiaowu X; Berry, Jesse L JL

Publication Date: 2020-12

Variant appearance in text: RB1: 958C>T; Arg320*

PubMed Link: 32799607

Variant Present in the following documents:

• Main text

View BVdb publication page

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H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology

Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM

Publication Date: 2020-10

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 32666581

Variant Present in the following documents:

• PATH-252-151-s001.xlsx, sheet 3

View BVdb publication page

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TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances

Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A

Publication Date: 2020

Variant appearance in text: RB1: 958C>T; Arg320Ter

PubMed Link: 32642724

Variant Present in the following documents:

• vdz059_suppl_suplementary_table_2.xlsx, sheet 1

View BVdb publication page

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: RB1: 958C>T; rs121913300

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 3

View BVdb publication page

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Cell-free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience.

Cancer Medicine

Kothari, Prachi P; Marass, Francesco F; Yang, Julie L JL; Stewart, Caitlin M CM; Stephens, Dennis D; Patel, Juber J; Hasan, Maysun M; Jing, Xiaohong X; Meng, Fanli F; Enriquez, Jeanette J; Huberman, Kety K; Viale, Agnes A; Francis, Jasmine H JH; Berger, Michael F MF; Shukla, Neerav N; Abramson, David H DH; Dunkel, Ira J IJ; Tsui, Dana W Y DWY

Publication Date: 2020-09

Variant appearance in text: RB1: R320*

PubMed Link: 32633890

Variant Present in the following documents:

• CAM4-9-6093.pdf

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: R320*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr

Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P

Publication Date: 2020-06-15

Variant appearance in text: RB1: R320*

PubMed Link: 32539869

Variant Present in the following documents:

• 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1

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: R320*

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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Genetic and expression variations of cell cycle pathway genes in brain tumor patients.

Bioscience Reports

Naqvi, Anum Zehra AZ; Mahjabeen, Ishrat I; Ameen, Saima S; Ahmed, Malik Waqar MW; Khan, Asad Ullah AU; Akram, Zertashia Z; Kayani, Mahmood Akhtar MA

Publication Date: 2020-05-29

Variant appearance in text: rs121913300

PubMed Link: 32373934

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: RB1: 958C>T; R320*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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