Publications:

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine

Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A

Publication Date: 2021-11-09

Variant appearance in text: POLE: 874C>T

PubMed Link: 34749799

Variant Present in the following documents:

• 13073_2021_976_MOESM1_ESM.pdf

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Distinctive genomic characteristics in POLE/POLD1-mutant cancers can potentially predict beneficial clinical outcomes in patients who receive immune checkpoint inhibitor.

Annals Of Translational Medicine

He, Junjun J; Ouyang, Wei W; Zhao, Wugan W; Shao, Lin L; Li, Bing B; Liu, Bihao B; Wang, Dejuan D; Han-Zhang, Han H; Zhang, Zhou Z; Shao, Liang L; Li, Wencai W

Publication Date: 2021-01

Variant appearance in text: POLE: Q292*

PubMed Link: 33569431

Variant Present in the following documents:

• Main text
• atm-09-02-129.pdf

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Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications

Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW

Publication Date: 2021-01-08

Variant appearance in text: POLE: Q292X

PubMed Link: 33420073

Variant Present in the following documents:

• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7

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