Publications:

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POLE-Mutant Colon Cancer Treated with PD-1 Blockade Showing Clearance of Circulating Tumor DNA and Prolonged Disease-Free Interval.

Genes

Bikhchandani, Mihir M; Amersi, Farin F; Hendifar, Andrew A; Gangi, Alexandra A; Osipov, Arsen A; Zaghiyan, Karen K; Atkins, Katelyn K; Cho, May M; Aguirre, Francesca F; Hazelett, Dennis D; Alvarez, Rocio R; Zhou, Lisa L; Hitchins, Megan M; Gong, Jun J

Publication Date: 2023-05-08

Variant appearance in text: POLE: 1307C>G; P436R

PubMed Link: 37239414

Variant Present in the following documents:

• Main text
• genes-14-01054.pdf

View BVdb publication page

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Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Biorxiv : The Preprint Server For Biology

Liu, Mei Hong MH; Costa, Benjamin B; Choi, Una U; Bandler, Rachel C RC; Lassen, Emilie E; Grońska-Pęski, Marta M; Schwing, Adam A; Murphy, Zachary R ZR; Rosenkjær, Daniel D; Picciotto, Shany S; Bianchi, Vanessa V; Stengs, Lucie L; Edwards, Melissa M; Loh, Caitlin A CA; Truong, Tina K TK; Brand, Randall E RE; Pastinen, Tomi T; Wagner, J Richard JR; Skytte, Anne-Bine AB; Tabori, Uri U; Shoag, Jonathan E JE; Evrony, Gilad D GD

Publication Date: 2023-02-19

Variant appearance in text: POLE: P436R

PubMed Link: 36824744

Variant Present in the following documents:

• media-3.xlsx, sheet 3
• media-1.pdf
• media-3.xlsx, sheet 4
• media-3.xlsx, sheet 1
• media-3.xlsx, sheet 2
• nihpp-2023.02.19.526140v1.pdf

View BVdb publication page

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Utility of molecular subtypes and genetic alterations for evaluating clinical outcomes in 1029 patients with endometrial cancer.

British Journal Of Cancer

Asami, Yuka Y; Kobayashi Kato, Mayumi M; Hiranuma, Kengo K; Matsuda, Maiko M; Shimada, Yoko Y; Ishikawa, Mitsuya M; Koyama, Takafumi T; Komatsu, Masaaki M; Hamamoto, Ryuji R; Nagashima, Minoru M; Terao, Yasuhisa Y; Itakura, Atsuo A; Kohno, Takashi T; Sekizawa, Akihiko A; Matsumoto, Koji K; Kato, Tomoyasu T; Shiraishi, Kouya K; Yoshida, Hiroshi H

Publication Date: 2023-02-16

Variant appearance in text: POLE: P436R

PubMed Link: 36797358

Variant Present in the following documents:

• Main text
• 41416_2023_2203_MOESM1_ESM.pdf
• 41416_2023_Article_2203.pdf

View BVdb publication page

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Molecular profile-based recommendations for postoperative adjuvant therapy in early endometrial cancer with high-intermediate or intermediate risk: a Chinese randomized phase III trial (PROBEAT).

Journal Of Gynecologic Oncology

Li, Yang Y; Zhu, Changkun C; Xie, Hongyu H; Chen, Yaxia Y; Lv, Weiguo W; Xie, Xing X; Wang, Xinyu X

Publication Date: 2023-01-10

Variant appearance in text: POLE: P436R

PubMed Link: 36659832

Variant Present in the following documents:

• jgo-34-e37.pdf

View BVdb publication page

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Refining adjuvant treatment in endometrial cancer based on molecular features: the RAINBO clinical trial program.

International Journal Of Gynecological Cancer : Official Journal Of The International Gynecological Cancer Society

,

Publication Date: 2022-12-20

Variant appearance in text: POLE: 1307C>G; P436R

PubMed Link: 36600534

Variant Present in the following documents:

• ijgc-2022-004039supp001.pdf

View BVdb publication page

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A new strategy in molecular typing: the accuracy of an NGS panel for the molecular classification of endometrial cancers.

Annals Of Translational Medicine

Li, Yang Y; Feng, Junnan J; Zhao, Chengzhi C; Meng, Lin L; Shi, Shanshan S; Liu, Kangdong K; Ma, Jie J

Publication Date: 2022-08

Variant appearance in text: POLE: 1307C>G

PubMed Link: 36111057

Variant Present in the following documents:

• Main text
• atm-10-16-870.pdf

View BVdb publication page

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Molecular classification grade 3 endometrial endometrioid carcinoma using a next-generation sequencing-based gene panel.

Frontiers In Oncology

Li, Ling L; Chen, Fangfang F; Liu, Jingcheng J; Zhu, Weifeng W; Lin, Liang L; Chen, Li L; Shi, Yi Y; Lin, An A; Chen, Gang G

Publication Date: 2022

Variant appearance in text: POLE: P436R

PubMed Link: 36003784

Variant Present in the following documents:

• Main text
• fonc-12-935694.pdf

View BVdb publication page

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Biomarker characterization in endometrial cancer in Italy: first survey data analysis.

Pathologica

Zannoni, Gian Franco GF; Santoro, Angela A; D'Alessandris, Nicoletta N; Scaglione, Giulia G; Inzani, Frediano F; Angelico, Giuseppe G; Bragantini, Emma E; Piermattei, Alessia A; Cianfrini, Federica F; Bisaro, Brigitte B; Fassan, Matteo M; ,

Publication Date: 2022-06

Variant appearance in text: POLE: P436R

PubMed Link: 35775705

Variant Present in the following documents:

• Main text
• pathol-2022-03-189.pdf

View BVdb publication page

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Cancerization of ducts in hilar cholangiocarcinoma.

Virchows Archiv : An International Journal Of Pathology

Lee, Jae W JW; Zhang, Yang Y; Yoshizawa, Tadashi T; Argani, Pedram P; Wood, Laura D LD; Oshima, Kiyoko K

Publication Date: 2022-08

Variant appearance in text: POLE: P436R

PubMed Link: 35527321

Variant Present in the following documents:

• Main text
• 428_2022_Article_3379.pdf

View BVdb publication page

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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: P436R

PubMed Link: 35463299

Variant Present in the following documents:

• Main text
• fonc-12-805613.pdf

View BVdb publication page

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Selection of endometrial carcinomas for p53 immunohistochemistry based on nuclear features.

The Journal Of Pathology. Clinical Research

Kang, Eun Young EY; Wiebe, Nicholas Jp NJ; Aubrey, Christa C; Lee, Cheng-Han CH; Anglesio, Michael S MS; Tilley, Derek D; Ghatage, Prafull P; Nelson, Gregg S GS; Lee, Sandra S; Köbel, Martin M

Publication Date: 2021-10-01

Variant appearance in text: POLE: P436R

PubMed Link: 34596362

Variant Present in the following documents:

• Main text
• CJP2-8-19.pdf
• CJP2-8-19-s001.xlsx, sheet 2

View BVdb publication page

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Selection of endometrial carcinomas for p53 immunohistochemistry based on nuclear features.

The Journal Of Pathology. Clinical Research

Kang, Eun Young EY; Wiebe, Nicholas Jp NJ; Aubrey, Christa C; Lee, Cheng-Han CH; Anglesio, Michael S MS; Tilley, Derek D; Ghatage, Prafull P; Nelson, Gregg S GS; Lee, Sandra S; Köbel, Martin M

Publication Date: 2022-01

Variant appearance in text: POLE: P436R

PubMed Link: 34596362

Variant Present in the following documents:

• Main text
• CJP2-8-19.pdf
• CJP2-8-19-s001.xlsx, sheet 2

View BVdb publication page

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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: P436R

PubMed Link: 34586735

Variant Present in the following documents:

• 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: 1307C>G; Pro436Arg; rs864622766

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.

Cancer Medicine

Hu, Hanguang H; Cai, Wen W; Wu, Dehao D; Hu, Wangxiong W; Dong Wang, Li L; Mao, Jianshan J; Zheng, Shu S; Ge, Weiting W

Publication Date: 2021-01

Variant appearance in text: POLE: P436R

PubMed Link: 33125191

Variant Present in the following documents:

• Main text
• CAM4-10-135.pdf

View BVdb publication page

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Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Cancer Research

Galati, Melissa A MA; Hodel, Karl P KP; Gams, Miki S MS; Sudhaman, Sumedha S; Bridge, Taylor T; Zahurancik, Walter J WJ; Ungerleider, Nathan A NA; Park, Vivian S VS; Ercan, Ayse B AB; Joksimovic, Lazar L; Siddiqui, Iram I; Siddaway, Robert R; Edwards, Melissa M; de Borja, Richard R; Elshaer, Dana D; Chung, Jiil J; Forster, Victoria J VJ; Nunes, Nuno M NM; Aronson, Melyssa M; Wang, Xia X; Ramdas, Jagadeesh J; Seeley, Andrea A; Sarosiek, Tomasz T; Dunn, Gavin P GP; Byrd, Jonathan N JN; Mordechai, Oz O; Durno, Carol C; Martin, Alberto A; Shlien, Adam A; Bouffet, Eric E; Suo, Zucai Z; Jackson, James G JG; Hawkins, Cynthia E CE; Guidos, Cynthia J CJ; Pursell, Zachary F ZF; Tabori, Uri U

Publication Date: 2020-12-15

Variant appearance in text: POLE: P436R

PubMed Link: 32938641

Variant Present in the following documents:

• Main text

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: P436R

PubMed Link: 32801757

Variant Present in the following documents:

• Main text
• ott-13-7305.pdf

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: POLE: P436R

PubMed Link: 32686686

Variant Present in the following documents:

• Main text
• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: POLE: P436R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Prognostic Biomarkers in Endometrial Cancer: A Systematic Review and Meta-Analysis.

Journal Of Clinical Medicine

Coll-de la Rubia, Eva E; Martinez-Garcia, Elena E; Dittmar, Gunnar G; Gil-Moreno, Antonio A; Cabrera, Silvia S; Colas, Eva E

Publication Date: 2020-06-17

Variant appearance in text: POLE: P436R

PubMed Link: 32560580

Variant Present in the following documents:

• jcm-09-01900.pdf

View BVdb publication page

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Clinical patterns and genomic profiling of recurrent 'ultra-low risk' endometrial cancer.

International Journal Of Gynecological Cancer : Official Journal Of The International Gynecological Cancer Society

Stasenko, Marina M; Feit, Noah N; Lee, Simon S K SSK; Shepherd, Cassandra C; Soslow, Robert A RA; Cadoo, Karen A KA; Alektiar, Kaled K; Da Silva, Edaise M EM; Martins Sebastião, Ana Paula AP; Leitao, Mario M MM; Gardner, Ginger G; Selenica, Pier P; Abu-Rustum, Nadeem R NR; Weigelt, Britta B; Mueller, Jennifer J JJ

Publication Date: 2020-06

Variant appearance in text: POLE: P436R

PubMed Link: 32376737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Plos Genetics

Fang, Hu H; Barbour, Jayne A JA; Poulos, Rebecca C RC; Katainen, Riku R; Aaltonen, Lauri A LA; Wong, Jason W H JWH

Publication Date: 2020-02

Variant appearance in text: POLE: P436R

PubMed Link: 32012149

Variant Present in the following documents:

• pgen.1008572.s019.xlsx, sheet 1

View BVdb publication page

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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: 1307C>G; P436R

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinicopathological and molecular characterisation of 'multiple-classifier' endometrial carcinomas.

The Journal Of Pathology

León-Castillo, Alicia A; Gilvazquez, Ester E; Nout, Remi R; Smit, Vincent Thbm VT; McAlpine, Jessica N JN; McConechy, Melissa M; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Soslow, Robert A RA; Ganesan, Raji R; Matias-Guiu, Xavier X; Oliva, Esther E; Harrison, Beth T BT; Church, David N DN; Gilks, C Blake CB; Bosse, Tjalling T

Publication Date: 2020-03

Variant appearance in text: POLE: Pro436Arg

PubMed Link: 31829447

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1307C>G; P436R

PubMed Link: 31829442

Variant Present in the following documents:

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

View BVdb publication page

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Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer.

Gynecologic Oncology

Stasenko, Marina M; Tunnage, Irina I; Ashley, Charles W CW; Rubinstein, Maria M MM; Latham, Alicia J AJ; Da Cruz Paula, Arnaud A; Mueller, Jennifer J JJ; Leitao, Mario M MM; Friedman, Claire F CF; Makker, Vicky V; Soslow, Robert A RA; DeLair, Deborah F DF; Hyman, David M DM; Zamarin, Dimitriy D; Alektiar, Kaled M KM; Aghajanian, Carol A CA; Abu-Rustum, Nadeem R NR; Weigelt, Britta B; Cadoo, Karen A KA

Publication Date: 2020-01

Variant appearance in text: POLE: P436R

PubMed Link: 31757464

Variant Present in the following documents:

• Main text

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: P436R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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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: P436R

PubMed Link: 30917185

Variant Present in the following documents:

• Main text
• pone.0214318.pdf

View BVdb publication page

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Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.

G3 (Bethesda, Md.)

Barbari, Stephanie R SR; Kane, Daniel P DP; Moore, Elizabeth A EA; Shcherbakova, Polina V PV

Publication Date: 2018-03-02

Variant appearance in text: POLE: P436R

PubMed Link: 29352080

Variant Present in the following documents:

• Main text
• 1019FileS1.pdf
• 1019.pdf

View BVdb publication page

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Family A and B DNA Polymerases in Cancer: Opportunities for Therapeutic Interventions.

Biology

Shanbhag, Vinit V; Sachdev, Shrikesh S; Flores, Jacqueline A JA; Modak, Mukund J MJ; Singh, Kamalendra K

Publication Date: 2018-01-02

Variant appearance in text: POLE: P436R

PubMed Link: 29301327

Variant Present in the following documents:

• Main text
• biology-07-00005.pdf

View BVdb publication page

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Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget

Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ

Publication Date: 2017-01-24

Variant appearance in text: POLE: P436R

PubMed Link: 28179590

Variant Present in the following documents:

• Main text
• oncotarget-08-6579.pdf

View BVdb publication page

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Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.

Genes

Mertz, Tony M TM; Harcy, Victoria V; Roberts, Steven A SA

Publication Date: 2017-01-22

Variant appearance in text: POLE: P436R

PubMed Link: 28117753

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P436R

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s004.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: POLE: 1307C>G; P436R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: POLE: P436R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, 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: 1307C>G; P436R

PubMed Link: 25224212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replicative DNA polymerase mutations in cancer.

Current Opinion In Genetics & Development

Heitzer, Ellen E; Tomlinson, Ian I

Publication Date: 2014-02

Variant appearance in text: POLE: P436R

PubMed Link: 24583393

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Nature Genetics

Palles, Claire C; Cazier, Jean-Baptiste JB; Howarth, Kimberley M KM; Domingo, Enric E; Jones, Angela M AM; Broderick, Peter P; Kemp, Zoe Z; Spain, Sarah L SL; Guarino, Estrella E; Guarino Almeida, Estrella E; Salguero, Israel I; Sherborne, Amy A; Chubb, Daniel D; Carvajal-Carmona, Luis G LG; Ma, Yusanne Y; Kaur, Kulvinder K; Dobbins, Sara S; Barclay, Ella E; Gorman, Maggie M; Martin, Lynn L; Kovac, Michal B MB; Humphray, Sean S; , ; , ; Lucassen, Anneke A; Holmes, Christopher C CC; Bentley, David D; Donnelly, Peter P; Taylor, Jenny J; Petridis, Christos C; Roylance, Rebecca R; Sawyer, Elinor J EJ; Kerr, David J DJ; Clark, Susan S; Grimes, Jonathan J; Kearsey, Stephen E SE; Thomas, Huw J W HJ; McVean, Gilean G; Houlston, Richard S RS; Tomlinson, Ian I

Publication Date: 2013-02

Variant appearance in text: POLE: P436R

PubMed Link: 23263490

Variant Present in the following documents:

• Main text
• emss-53122.pdf
• NIHMS53122-supplement-1.pdf

View BVdb publication page

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