Publications:

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: 947A>G; Asp316Gly

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: D316G

PubMed Link: 32792570

Variant Present in the following documents:

• 41436_2020_Article_922.pdf

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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget

Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S

Publication Date: 2017-04-18

Variant appearance in text: POLE: Asp316Gly

PubMed Link: 28423643

Variant Present in the following documents:

• Main text
• oncotarget-08-26732.pdf

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