Publications:

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: POLE: R114*

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: POLE: 340C>T; R114*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: POLE: R114*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: POLE: 340C>T; Arg114Ter

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

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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: POLE: 340C>T; R114*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 340C>T

PubMed Link: 31829442

Variant Present in the following documents:

• Main text
• PATH-250-323-s002.xlsx, sheet 2
• PATH-250-323.pdf

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: POLE: R114*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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DNA Damage Response and Repair Gene Alterations Are Associated with Improved Survival in Patients with Platinum-Treated Advanced Urothelial Carcinoma.

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

Teo, Min Yuen MY; Bambury, Richard M RM; Zabor, Emily C EC; Jordan, Emmet E; Al-Ahmadie, Hikmat H; Boyd, Mariel E ME; Bouvier, Nancy N; Mullane, Stephanie A SA; Cha, Eugene K EK; Roper, Nitin N; Ostrovnaya, Irina I; Hyman, David M DM; Bochner, Bernard H BH; Arcila, Maria E ME; Solit, David B DB; Berger, Michael F MF; Bajorin, Dean F DF; Bellmunt, Joaquim J; Iyer, Gopakumar G; Rosenberg, Jonathan E JE

Publication Date: 2017-07-15

Variant appearance in text: POLE: R114*

PubMed Link: 28137924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immune activation and response to pembrolizumab in POLE-mutant endometrial cancer.

The Journal Of Clinical Investigation

Mehnert, Janice M JM; Panda, Anshuman A; Zhong, Hua H; Hirshfield, Kim K; Damare, Sherri S; Lane, Katherine K; Sokol, Levi L; Stein, Mark N MN; Rodriguez-Rodriquez, Lorna L; Kaufman, Howard L HL; Ali, Siraj S; Ross, Jeffrey S JS; Pavlick, Dean C DC; Bhanot, Gyan G; White, Eileen P EP; DiPaola, Robert S RS; Lovell, Ann A; Cheng, Jonathan J; Ganesan, Shridar S

Publication Date: 2016-06-01

Variant appearance in text: POLE: R114*

PubMed Link: 27159395

Variant Present in the following documents:

• Main text

View BVdb publication page

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