Publications:

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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: 1738G>T; Glu580Ter

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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RNA Sequencing Identifies Frequent Mitogen Activated Protein Kinase-Associated Fusion Genes in Intraductal Tubulopapillary Neoplasms of the Pancreas.

Gastroenterology

Lee, Jae W JW; Hruban, Ralph H RH; Brosens, Lodewijk A A LAA; Condello, Vincenzo V; , ; Nikiforova, Marina N MN; Singhi, Aatur D AD

Publication Date: 2023-02-17

Variant appearance in text: RB1: E580*

PubMed Link: 36801389

Variant Present in the following documents:

• nihms-1903203.pdf

View BVdb publication page

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Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Ophthalmology Science

Abramson, David H DH; Mandelker, Diana D; Francis, Jasmine H JH; Dunkel, Ira J IJ; Brannon, A Rose AR; Benayed, Ryma R; Berger, Michael F MF; Arcila, Maria E ME; Ladanyi, Marc M; Friedman, Danielle Novetsky DN; Jayakumaran, Gowtham G; Diosdado, Monica S MS; Robbins, Melissa A MA; Haggag-Lindgren, Dianna D; Shukla, Neerav N; Walsh, Michael M; Kothari, Prachi P; Tsui, Dana W Y DWY

Publication Date: 2021-03

Variant appearance in text: RB1: E580*

PubMed Link: 36246006

Variant Present in the following documents:

• main.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: rs587778858

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

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: rs587778858

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.

Nature Communications

Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J

Publication Date: 2021-11-19

Variant appearance in text: RB1: 1738G>T; E580*

PubMed Link: 34799585

Variant Present in the following documents:

• 41467_2021_27022_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.

Nature Communications

Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J

Publication Date: 2021-11-19

Variant appearance in text: RB1: 1738G>T; E580*

PubMed Link: 34799585

Variant Present in the following documents:

• 41467_2021_27022_MOESM5_ESM.xlsx, sheet 1

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: 1738G>T; E580*

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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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: rs587778858

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.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: 1738G>T

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.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: 1738G>T; E580*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A combination of the PI3K pathway inhibitor plus cell cycle pathway inhibitor to combat endocrine resistance in hormone receptor-positive breast cancer: a genomic algorithm-based treatment approach.

American Journal Of Cancer Research

Gul, Anita A; Leyland-Jones, Brain B; Dey, Nandini N; De, Pradip P

Publication Date: 2018

Variant appearance in text: RB1: E580*

PubMed Link: 30662797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: RB1: 1738G>T; E580*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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