POLE c.1331T>A ;(p.M444K)

Variant ID: 12-133250189-A-T

NM_006231.2(POLE):c.1331T>A;(p.M444K)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


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: M444K
PubMed Link: 36824744
Variant Present in the following documents:
  • media-1.pdf
  • nihpp-2023.02.19.526140v1.pdf
  • media-3.xlsx, sheet 3
  • media-3.xlsx, sheet 4
  • media-3.xlsx, sheet 2
  • media-3.xlsx, sheet 1
View BVdb publication page



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: 1331T>A
PubMed Link: 36600534
Variant Present in the following documents:
  • ijgc-2022-004039supp001.pdf
View BVdb publication page



The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Publication Date: 2022-12-30

Variant appearance in text: POLE: M444K
PubMed Link: 36585449
Variant Present in the following documents:
  • 43018_2022_474_MOESM3_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM2_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM7_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM2_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM10_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM12_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM10_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM3_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM7_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM12_ESM.xlsx, sheet 10
View BVdb publication page



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: 1331T>A
PubMed Link: 36111057
Variant Present in the following documents:
  • Main text
  • atm-10-16-870.pdf
View BVdb publication page



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: M444K
PubMed Link: 35775705
Variant Present in the following documents:
  • Main text
  • pathol-2022-03-189.pdf
View BVdb publication page



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: M444K
PubMed Link: 35527321
Variant Present in the following documents:
  • Main text
  • 428_2022_Article_3379.pdf
View BVdb publication page



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: M444K
PubMed Link: 35320887
Variant Present in the following documents:
  • jgo-33-e38.pdf
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: POLE: M444K
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Distinct mutational profile and immune microenvironment in microsatellite-unstable and POLE-mutated tumors.

Journal For Immunotherapy Of Cancer
Hwang, Hee Sang HS; Kim, Deokhoon D; Choi, Jene J
Publication Date: 2021-10

Variant appearance in text: POLE: M444K
PubMed Link: 34607897
Variant Present in the following documents:
  • Main text
  • jitc-2021-002797.pdf
View BVdb publication page



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: M444K
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



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: M444K
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



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: M444K
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



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: 1331T>A; M444K
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Mutagenic mechanisms of cancer-associated DNA polymerase ϵ alleles.

Nucleic Acids Research
Herzog, Mareike M; Alonso-Perez, Elisa E; Salguero, Israel I; Warringer, Jonas J; Adams, David J DJ; Jackson, Stephen P SP; Puddu, Fabio F
Publication Date: 2021-04-19

Variant appearance in text: POLE: M444K
PubMed Link: 33764464
Variant Present in the following documents:
  • Main text
  • gkab160.pdf
View BVdb publication page



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: M444K
PubMed Link: 32801757
Variant Present in the following documents:
  • Main text
  • ott-13-7305.pdf
View BVdb publication page



Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.

The Oncologist
Guo, Yun Y; Guo, Xian-Ling XL; Wang, Shuang S; Chen, Xinyu X; Shi, Jiaochun J; Wang, Jian J; Wang, Kai K; Klempner, Samuel J SJ; Wang, Weifeng W; Xiao, Min M
Publication Date: 2020-11

Variant appearance in text: POLE: M444K
PubMed Link: 32627883
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: M444K
PubMed Link: 32560580
Variant Present in the following documents:
  • jcm-09-01900.pdf
View BVdb publication page



Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Genome Research
Fujimoto, Akihiro A; Fujita, Masashi M; Hasegawa, Takanori T; Wong, Jing Hao JH; Maejima, Kazuhiro K; Oku-Sasaki, Aya A; Nakano, Kaoru K; Shiraishi, Yuichi Y; Miyano, Satoru S; Yamamoto, Go G; Akagi, Kiwamu K; Imoto, Seiya S; Nakagawa, Hidewaki H
Publication Date: 2020-03-24

Variant appearance in text: POLE: M444K
PubMed Link: 32209592
Variant Present in the following documents:
  • supp_gr.255026.119_Supplemental_Tables.xlsx, sheet 12
View BVdb publication page



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: M444K
PubMed Link: 32012149
Variant Present in the following documents:
  • pgen.1008572.s019.xlsx, sheet 1
View BVdb publication page



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: 1331T>A; M444K
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



Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications
Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2019-10-31

Variant appearance in text: POLE: M444K
PubMed Link: 31672974
Variant Present in the following documents:
  • 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing.

Jnci Cancer Spectrum
Poulos, Rebecca C RC; Perera, Dilmi D; Packham, Deborah D; Shah, Anushi A; Janitz, Caroline C; Pimanda, John E JE; Hawkins, Nicholas N; Ward, Robyn L RL; Hesson, Luke B LB; Wong, Jason W H JWH
Publication Date: 2019-06

Variant appearance in text: POLE: Met444Lys
PubMed Link: 31360895
Variant Present in the following documents:
  • Main text
  • pkz012.pdf
View BVdb publication page



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: M444K
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



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: M444K
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: POLE: 1331T>A; M444K
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page



Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression.

Gynecologic Oncology
Ashley, Charles W CW; Da Cruz Paula, Arnaud A; Kumar, Rahul R; Mandelker, Diana D; Pei, Xin X; Riaz, Nadeem N; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2019-01

Variant appearance in text: POLE: M444K
PubMed Link: 30415991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: POLE: M444K
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s002.pdf
  • PATH-245-283-s006.pdf
  • PATH-245-283-s004.pdf
View BVdb publication page



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: M444K
PubMed Link: 29301327
Variant Present in the following documents:
  • Main text
  • biology-07-00005.pdf
View BVdb publication page



Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.

The Oncologist
Johnson, Adrienne A; Severson, Eric E; Gay, Laurie L; Vergilio, Jo-Anne JA; Elvin, Julia J; Suh, James J; Daniel, Sugganth S; Covert, Mandy M; Frampton, Garrett M GM; Hsu, Sigmund S; Lesser, Glenn J GJ; Stogner-Underwood, Kimberly K; Mott, Ryan T RT; Rush, Sarah Z SZ; Stanke, Jennifer J JJ; Dahiya, Sonika S; Sun, James J; Reddy, Prasanth P; Chalmers, Zachary R ZR; Erlich, Rachel R; Chudnovsky, Yakov Y; Fabrizio, David D; Schrock, Alexa B AB; Ali, Siraj S; Miller, Vincent V; Stephens, Philip J PJ; Ross, Jeffrey J; Crawford, John R JR; Ramkissoon, Shakti H SH
Publication Date: 2017-12

Variant appearance in text: POLE: M444K
PubMed Link: 28912153
Variant Present in the following documents:
  • onco12246.pdf
View BVdb publication page



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: M444K
PubMed Link: 28179590
Variant Present in the following documents:
  • Main text
  • oncotarget-08-6579.pdf
View BVdb publication page



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: M444K
PubMed Link: 28117753
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: M444K
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s005.xlsx, sheet 1
View BVdb publication page



In-depth molecular profiling of the biphasic components of uterine carcinosarcomas.

The Journal Of Pathology. Clinical Research
McConechy, Melissa K MK; Hoang, Lien N LN; Chui, Michael Herman MH; Senz, Janine J; Yang, Winnie W; Rozenberg, Nirit N; Mackenzie, Robertson R; McAlpine, Jessica N JN; Huntsman, David G DG; Clarke, Blaise A BA; Gilks, Cyril Blake CB; Lee, Cheng-Han CH
Publication Date: 2015-07

Variant appearance in text: POLE: M444K
PubMed Link: 27499902
Variant Present in the following documents:
  • Main text
  • CJP2-1-173.pdf
  • CJP2-1-173-s002.xlsx, sheet 1
View BVdb publication page



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: 1331T>A; M444K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: M444K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



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: 1331T>A; Met444Lys
PubMed Link: 23528559
Variant Present in the following documents:
  • Main text
View BVdb publication page