Publications:

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Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics

Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H

Publication Date: 2022

Variant appearance in text: POLE: 833C>A; T278K

PubMed Link: 36479248

Variant Present in the following documents:

• Main text
• fgene-13-963964.pdf

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Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.

Npj Precision Oncology

Berrino, Enrico E; Filippi, Roberto R; Visintin, Clara C; Peirone, Serena S; Fenocchio, Elisabetta E; Farinea, Giovanni G; Veglio, Franco F; Aglietta, Massimo M; Sapino, Anna A; Cereda, Matteo M; Visintin, Rosella R; Pasini, Barbara B; Marchiò, Caterina C

Publication Date: 2022-03-08

Variant appearance in text: POLE: Thr278Lys

PubMed Link: 35260767

Variant Present in the following documents:

• Main text
• 41698_2022_Article_258.pdf

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Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.

Journal For Immunotherapy Of Cancer

Ying, Jieer J; Yang, Lin L; Yin, Jiani C JC; Xia, Guojie G; Xing, Minyan M; Chen, Xiaoxi X; Pang, Jiaohui J; Wu, Yong Y; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Zhu, Lingjun L; Cheng, Xiangdong X

Publication Date: 2021-09

Variant appearance in text: POLE: T278K

PubMed Link: 34479923

Variant Present in the following documents:

• Main text
• jitc-2021-002336.pdf

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Role of POLE and POLD1 in familial cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L

Publication Date: 2020-12

Variant appearance in text: POLE: Thr278Lys

PubMed Link: 32792570

Variant Present in the following documents:

• Main text
• 41436_2020_Article_922.pdf
• 41436_2020_922_MOESM1_ESM.pdf

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics

González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M

Publication Date: 2020-04

Variant appearance in text: POLE: 833C>A; Thr278Lys

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.xlsx, sheet 3

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: POLE: 833C>A

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

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