Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: POLE: R446W; rs200403177

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Journal Of Gynecologic Oncology

Yu, Shuangni S; Sun, Zezheng Z; Zong, Liju L; Yan, Jie J; Yu, Mei M; Chen, Jie J; Lu, Zhaohui Z

Publication Date: 2022-05

Variant appearance in text: POLE: R446W

PubMed Link: 35320887

Variant Present in the following documents:

• jgo-33-e38-s001.xls, 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: R446W

PubMed Link: 34586735

Variant Present in the following documents:

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

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: 1336C>T; R446W; rs200403177

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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POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy

Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X

Publication Date: 2020

Variant appearance in text: POLE: R446W

PubMed Link: 32801757

Variant Present in the following documents:

• Main text
• ott-13-7305.pdf

View BVdb publication page

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Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Diagnostic Pathology

Moreno, Esther E; Rosa-Rosa, Juan M JM; Caniego-Casas, Tamara T; Ruz-Caracuel, Ignacio I; Perna, Cristian C; Guillén, Carmen C; Palacios, José J

Publication Date: 2020-07-14

Variant appearance in text: POLE: R446W

PubMed Link: 32664968

Variant Present in the following documents:

• Main text
• 13000_2020_Article_1001.pdf

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: R446W

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs200403177

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

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

Buchanan, Daniel D DD; Stewart, Jenna R JR; Clendenning, Mark M; Rosty, Christophe C; Mahmood, Khalid K; Pope, Bernard J BJ; Jenkins, Mark A MA; Hopper, John L JL; Southey, Melissa C MC; Macrae, Finlay A FA; Winship, Ingrid M IM; Win, Aung Ko AK

Publication Date: 2018-08

Variant appearance in text: POLE: 1336C>T; Arg446Trp

PubMed Link: 29120461

Variant Present in the following documents:

• Main text
• nihms909759.pdf

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: POLE: R446W

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.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: R446W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer

Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ

Publication Date: 2015-02-01

Variant appearance in text: POLE: R446W; rs200403177

PubMed Link: 25224212

Variant Present in the following documents:

• Main text

View BVdb publication page

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