Publications:

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: RB1: 1447C>T; His483Tyr

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Systematic Review of Molecular Biomarkers Predictive of Resistance to CDK4/6 Inhibition in Metastatic Breast Cancer.

Jco Precision Oncology

Asghar, Uzma S US; Kanani, Ruhi R; Roylance, Rebecca R; Mittnacht, Sibylle S

Publication Date: 2022-01

Variant appearance in text: RB1: H483Y

PubMed Link: 35005994

Variant Present in the following documents:

• po-6-e2100002.pdf

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Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Frontiers In Oncology

Bao, Chaohui C; An, Na N; Xie, Hong H; Xu, Ling L; Zhou, Boping B; Luo, Jun J; Huang, Wanqiu W; Huang, Jian J

Publication Date: 2021

Variant appearance in text: RB1: H483Y

PubMed Link: 34221990

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A

Publication Date: 2021

Variant appearance in text: RB1: 1447C>T; H483Y

PubMed Link: 33996580

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: RB1: 1447C>T; H483Y

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: RB1: 1447C>T; H483Y

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Latest Overview of the Cyclin-Dependent Kinases 4/6 Inhibitors in Breast Cancer: The Past, the Present and the Future.

Journal Of Cancer

Chen, Xiu X; Xu, Di D; Li, Xingjiang X; Zhang, Jian J; Xu, Weilin W; Hou, Junchen J; Zhang, Wei W; Tang, Jinhai J

Publication Date: 2019

Variant appearance in text: RB1: H483Y

PubMed Link: 31777590

Variant Present in the following documents:

• Main text
• jcav10p6608.pdf

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: His483Tyr

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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Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?

Molecular Genetics & Genomic Medicine

Imbert-Bouteille, Marion M; Gauthier-Villars, Marion M; Leroux, Dominique D; Meunier, Isabelle I; Aerts, Isabelle I; Lumbroso-Le Rouic, Livia L; Lejeune, Sophie S; Delnatte, Capucine C; Abadie, Caroline C; Pujol, Pascal P; Houdayer, Claude C; Corsini, Carole C

Publication Date: 2019-12

Variant appearance in text: RB1: His483Tyr

PubMed Link: 31568710

Variant Present in the following documents:

• Main text
• MGG3-7-e913.pdf

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Circulating tumour DNA analyses reveal novel resistance mechanisms to CDK inhibition in metastatic breast cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Abbosh, C C; Swanton, C C; Birkbak, N J NJ

Publication Date: 2018-03-01

Variant appearance in text: RB1: His483Tyr

PubMed Link: 29351578

Variant Present in the following documents:

• Main text
• mdy017.pdf

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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics

Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG

Publication Date: 2017-09

Variant appearance in text: RB1: 1447C>T

PubMed Link: 28780672

Variant Present in the following documents:

• Main text

View BVdb publication page

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