Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: POLE: 6539C>T; Ala2180Val

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: A2180V

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 6
• CTM2-11-e524-s001.xlsx, sheet 2

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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: 6539C>T; A2180V

PubMed Link: 34253785

Variant Present in the following documents:

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

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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: POLE: 6539C>T; A2180V

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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Whole-exome sequencing identifies prognostic mutational signatures in gastric cancer.

Annals Of Translational Medicine

Zhu, Zhenxin Z; Fu, Hongbing H; Wang, Shengzhou S; Yu, Xinxin X; You, Qing Q; Shi, Mengyao M; Dai, Chun C; Wang, Guan G; Cha, Wei W; Wang, Weimin W

Publication Date: 2020-11

Variant appearance in text: POLE: A2180V

PubMed Link: 33313229

Variant Present in the following documents:

• Main text
• atm-08-22-1484.pdf

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Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Frontiers In Oncology

Xu, Yun Y; Li, Cong C; Zhang, Yuqin Y; Guo, Tian'an T; Zhu, Congcong C; Xu, Ye Y; Liu, Fangqi F

Publication Date: 2020

Variant appearance in text: POLE: Ala2180Val

PubMed Link: 32984025

Variant Present in the following documents:

• Main text
• fonc-10-01603.pdf

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: POLE: 6539C>T; A2180V

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine

Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X

Publication Date: 2020-02

Variant appearance in text: POLE: 6539C>T; A2180V

PubMed Link: 31867841

Variant Present in the following documents:

• MGG3-8-e1079-s004.xlsx, sheet 1

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: A2180V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.

The Oncologist

Johnson, Adrienne A; Severson, Eric E; Gay, Laurie L; Vergilio, Jo-Anne JA; Elvin, Julia J; Suh, James J; Daniel, Sugganth S; Covert, Mandy M; Frampton, Garrett M GM; Hsu, Sigmund S; Lesser, Glenn J GJ; Stogner-Underwood, Kimberly K; Mott, Ryan T RT; Rush, Sarah Z SZ; Stanke, Jennifer J JJ; Dahiya, Sonika S; Sun, James J; Reddy, Prasanth P; Chalmers, Zachary R ZR; Erlich, Rachel R; Chudnovsky, Yakov Y; Fabrizio, David D; Schrock, Alexa B AB; Ali, Siraj S; Miller, Vincent V; Stephens, Philip J PJ; Ross, Jeffrey J; Crawford, John R JR; Ramkissoon, Shakti H SH

Publication Date: 2017-12

Variant appearance in text: POLE: A2180V

PubMed Link: 28912153

Variant Present in the following documents:

• onco12246.pdf

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: POLE: 6539C>T; A2180V

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: POLE: A2180V

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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