Publications:

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: POLE: 1847G>A; R616H

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

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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: R616H

PubMed Link: 34586735

Variant Present in the following documents:

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

View BVdb publication page

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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: 1847G>A; R616H; rs764558974

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Cancers

Golubicki, Mariano M; Díaz-Gay, Marcos M; Bonjoch, Laia L; Franch-Expósito, Sebastià S; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Carballido, Marcela M; Robbio, Juan J; Cisterna, Daniel D; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Castellví-Bel, Sergi S; Antelo, Marina M

Publication Date: 2021-03-12

Variant appearance in text: POLE: 1847G>A; Arg616His

PubMed Link: 33809179

Variant Present in the following documents:

• Main text
• cancers-13-01259.pdf

View BVdb publication page

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Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

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

Qiao, Lu L; Wynn, Julia J; Yu, Lan L; Hernan, Rebecca R; Zhou, Xueya X; Duron, Vincent V; Aspelund, Gudrun G; Farkouh-Karoleski, Christiana C; Zygumunt, Annette A; Krishnan, Usha S US; Nees, Shannon S; Khlevner, Julie J; Lim, Foong Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa Ellen ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; Soffer, Samuel S; Schindel, David D; McCulley, David J DJ; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2020-12

Variant appearance in text: POLE: 1847G>A; R616H

PubMed Link: 32719394

Variant Present in the following documents:

• NIHMS1619686-supplement-Supplementary_tables.xlsx, sheet 3

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: R616H

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.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: R616H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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