Publications:

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: POLE: R259C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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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: 775C>T; Arg259Cys; rs777638541

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Frontiers In Genetics

Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T

Publication Date: 2020

Variant appearance in text: POLE: 775C>T; R259C

PubMed Link: 33193653

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: R259C

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene.

International Journal Of Molecular Sciences

Indio, Valentina V; Astolfi, Annalisa A; Tarantino, Giuseppe G; Urbini, Milena M; Patterson, Janice J; Nannini, Margherita M; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; do Valle, Italo F IF; Castellani, Gastone G; Remondini, Daniel D; Fiorentino, Michelangelo M; von Mehren, Margaret M; Brandi, Giovanni G; Biasco, Guido G; Heinrich, Michael C MC; Pantaleo, Maria Aabbondanza MA

Publication Date: 2018-03-04

Variant appearance in text: POLE: R259C

PubMed Link: 29510530

Variant Present in the following documents:

• ijms-19-00732-s001.xlsx, sheet 4

View BVdb publication page