Publications:

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Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Cancers

Ju, Hye-Yeon HY; Ho, Jung Yoon JY; Kang, Jun J; Hur, Soo Young SY; Kim, Sejin S; Choi, Youn Jin YJ; Han, Mi-Ryung MR

Publication Date: 2022-05-19

Variant appearance in text: POLE: A465V

PubMed Link: 35626111

Variant Present in the following documents:

• Main text

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Current Prognostic and Predictive Biomarkers for Endometrial Cancer in Clinical Practice: Recommendations/Proposal from the Italian Study Group.

Frontiers In Oncology

Zannoni, Gian Franco GF; Bragantini, Emma E; Castiglione, Francesca F; Fassan, Matteo M; Troncone, Giancarlo G; Inzani, Frediano F; Pesci, Anna A; Santoro, Angela A; Fraggetta, Filippo F

Publication Date: 2022

Variant appearance in text: POLE: A465V

PubMed Link: 35463299

Variant Present in the following documents:

• Main text
• fonc-12-805613.pdf

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Distinct molecular phenotype and the potential prognostic value of immune prognostic index and tumor infiltrating lymphocytes in hepatoid adenocarcinoma of stomach.

Translational Oncology

Kang, Muxing M; Ma, Xiaojing X; Shi, Jifei J; Chen, Guofeng G; Jin, Xiaoli X; Wang, Jun J; Lin, Lele L; Wu, Zhiwei Z; Chen, Kaibo K; Xu, Jinghong J; Huang, Pintong P; Chen, Jian J

Publication Date: 2022-05

Variant appearance in text: POLE: A465V

PubMed Link: 35276435

Variant Present in the following documents:

• Main text
• main.pdf

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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: A465V

PubMed Link: 34586735

Variant Present in the following documents:

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

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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: 1394C>T; Ala465Val

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: A465V

PubMed Link: 32801757

Variant Present in the following documents:

• Main text
• ott-13-7305.pdf

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: POLE: 1394C>T; A465V

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Molecular Analyses of Left- and Right-Sided Tumors in Adolescents and Young Adults with Colorectal Cancer.

The Oncologist

Salem, Mohamed E ME; Battaglin, Francesca F; Goldberg, Richard M RM; Puccini, Alberto A; Shields, Anthony F AF; Arguello, David D; Korn, W Michael WM; Marshall, John L JL; Grothey, Axel A; Lenz, Heinz-Josef HJ

Publication Date: 2020-05

Variant appearance in text: POLE: A465V

PubMed Link: 31848314

Variant Present in the following documents:

• Main text

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 1394C>T; A465V

PubMed Link: 31829442

Variant Present in the following documents:

• Main text
• PATH-250-323-s002.xlsx, sheet 2
• PATH-250-323.pdf

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Molecular profiling and molecular classification of endometrioid ovarian carcinomas.

Gynecologic Oncology

Cybulska, Paulina P; Paula, Arnaud Da Cruz ADC; Tseng, Jill J; Leitao, Mario M MM; Bashashati, Ali A; Huntsman, David G DG; Nazeran, Tayyebeh M TM; Aghajanian, Carol C; Abu-Rustum, Nadeem R NR; DeLair, Deborah F DF; Shah, Sohrab P SP; Weigelt, Britta B

Publication Date: 2019-09

Variant appearance in text: POLE: A465V

PubMed Link: 31340883

Variant Present in the following documents:

• Main text

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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: A465V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Phenotype of POLE-mutated endometrial cancer.

Plos One

Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW

Publication Date: 2019

Variant appearance in text: POLE: 1394C>T; A465V

PubMed Link: 30917185

Variant Present in the following documents:

• Main text
• pone.0214318.pdf

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: POLE: A465V

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s005.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: POLE: 1394C>T; A465V

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: POLE: A465V

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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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: 1394C>T; A465V

PubMed Link: 25224212

Variant Present in the following documents:

• Main text

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JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations.

Scientific Reports

Ren, Yuan Y; Zhang, Yonghong Y; Liu, Richard Z RZ; Fenstermacher, David A DA; Wright, Kenneth L KL; Teer, Jamie K JK; Wu, Jie J

Publication Date: 2013-10-24

Variant appearance in text: POLE: A465V

PubMed Link: 24154688

Variant Present in the following documents:

• Main text

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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics

Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP

Publication Date: 2013-07-15

Variant appearance in text: POLE: 1394C>T; Ala465Val

PubMed Link: 23528559

Variant Present in the following documents:

• Main text
• ddt131.pdf
• supp_ddt131_ddt131supp.pdf

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