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4. The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. Ahn SM; Ansari AA; Kim J; Kim D; Chun SM; Kim J; Kim TW; Park I; Yu CS; Jang SJ Oncotarget; 2016 Oct; 7(42):68638-68649. PubMed ID: 27612425 [TBL] [Abstract][Full Text] [Related]
5. Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer. Ambrosini M; Rousseau B; Manca P; Artz O; Marabelle A; André T; Maddalena G; Mazzoli G; Intini R; Cohen R; Cercek A; Segal NH; Saltz L; Varghese AM; Yaeger R; Nusrat M; Goldberg Z; Ku GY; El Dika I; Margalit O; Grinshpun A; Murtaza Kasi P; Schilsky R; Lutfi A; Shacham-Shmueli E; Khan Afghan M; Weiss L; Westphalen CB; Conca V; Decker B; Randon G; Elez E; Fakih M; Schrock AB; Cremolini C; Jayachandran P; Overman MJ; Lonardi S; Pietrantonio F Ann Oncol; 2024 Jul; 35(7):643-655. PubMed ID: 38777726 [TBL] [Abstract][Full Text] [Related]
6. Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment. Stenzinger A; Pfarr N; Endris V; Penzel R; Jansen L; Wolf T; Herpel E; Warth A; Klauschen F; Kloor M; Roth W; Bläker H; Chang-Claude J; Brenner H; Hoffmeister M; Weichert W Cancer Med; 2014 Dec; 3(6):1527-38. PubMed ID: 25124163 [TBL] [Abstract][Full Text] [Related]
7. Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors. Lee M; Eng G; Barbari SR; Deshpande V; Shcherbakova PV; Gala MK Clin Transl Gastroenterol; 2020 Mar; 11(3):e00149. PubMed ID: 32352724 [TBL] [Abstract][Full Text] [Related]
8. Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. Andrianova MA; Chetan GK; Sibin MK; Mckee T; Merkler D; Narasinga RK; Ribaux P; Blouin JL; Makrythanasis P; Seplyarskiy VB; Antonarakis SE; Nikolaev SI J Pathol; 2017 Nov; 243(3):331-341. PubMed ID: 28805995 [TBL] [Abstract][Full Text] [Related]
9. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Wimmer K; Beilken A; Nustede R; Ripperger T; Lamottke B; Ure B; Steinmann D; Reineke-Plaass T; Lehmann U; Zschocke J; Valle L; Fauth C; Kratz CP Fam Cancer; 2017 Jan; 16(1):67-71. PubMed ID: 27573199 [TBL] [Abstract][Full Text] [Related]
10. Polymerase epsilon mutations and concomitant β2-microglobulin mutations in cancer. Voutsadakis IA Gene; 2018 Mar; 647():31-38. PubMed ID: 29320758 [TBL] [Abstract][Full Text] [Related]
12. Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring a Gong J; Wang C; Lee PP; Chu P; Fakih M J Natl Compr Canc Netw; 2017 Feb; 15(2):142-147. PubMed ID: 28188185 [TBL] [Abstract][Full Text] [Related]
13. Clinical impact of endometrial cancer stratified by genetic mutational profiles, POLE mutation, and microsatellite instability. Haruma T; Nagasaka T; Nakamura K; Haraga J; Nyuya A; Nishida T; Goel A; Masuyama H; Hiramatsu Y PLoS One; 2018; 13(4):e0195655. PubMed ID: 29659608 [TBL] [Abstract][Full Text] [Related]
14. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. Domingo E; Freeman-Mills L; Rayner E; Glaire M; Briggs S; Vermeulen L; Fessler E; Medema JP; Boot A; Morreau H; van Wezel T; Liefers GJ; Lothe RA; Danielsen SA; Sveen A; Nesbakken A; Zlobec I; Lugli A; Koelzer VH; Berger MD; Castellví-Bel S; Muñoz J; ; de Bruyn M; Nijman HW; Novelli M; Lawson K; Oukrif D; Frangou E; Dutton P; Tejpar S; Delorenzi M; Kerr R; Kerr D; Tomlinson I; Church DN Lancet Gastroenterol Hepatol; 2016 Nov; 1(3):207-216. PubMed ID: 28404093 [TBL] [Abstract][Full Text] [Related]
15. Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency. Bourdais R; Rousseau B; Pujals A; Boussion H; Joly C; Guillemin A; Baumgaertner I; Neuzillet C; Tournigand C Crit Rev Oncol Hematol; 2017 May; 113():242-248. PubMed ID: 28427513 [TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of POLE gene in patients with early-onset colorectal cancer revealed a rare silent variant within the endonuclease domain with potential effect on splicing. Lasabová Z; Kalman M; Holubeková V; Grendár M; Kašubová I; Jašek K; Meršaková S; Malicherová B; Baranenko D; Adamek M; Kruzliak P; Plank L Clin Exp Med; 2019 Aug; 19(3):393-400. PubMed ID: 31049795 [TBL] [Abstract][Full Text] [Related]
17. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Palles C; Cazier JB; Howarth KM; Domingo E; Jones AM; Broderick P; Kemp Z; Spain SL; Guarino E; Salguero I; Sherborne A; Chubb D; Carvajal-Carmona LG; Ma Y; Kaur K; Dobbins S; Barclay E; Gorman M; Martin L; Kovac MB; Humphray S; ; ; Lucassen A; Holmes CC; Bentley D; Donnelly P; Taylor J; Petridis C; Roylance R; Sawyer EJ; Kerr DJ; Clark S; Grimes J; Kearsey SE; Thomas HJ; McVean G; Houlston RS; Tomlinson I Nat Genet; 2013 Feb; 45(2):136-44. PubMed ID: 23263490 [TBL] [Abstract][Full Text] [Related]
18. Human Pol ε-dependent replication errors and the influence of mismatch repair on their correction. Agbor AA; Göksenin AY; LeCompte KG; Hans SH; Pursell ZF DNA Repair (Amst); 2013 Nov; 12(11):954-63. PubMed ID: 24051051 [TBL] [Abstract][Full Text] [Related]
19. Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response. Temko D; Van Gool IC; Rayner E; Glaire M; Makino S; Brown M; Chegwidden L; Palles C; Depreeuw J; Beggs A; Stathopoulou C; Mason J; Baker AM; Williams M; Cerundolo V; Rei M; Taylor JC; Schuh A; Ahmed A; Amant F; Lambrechts D; Smit VT; Bosse T; Graham TA; Church DN; Tomlinson I J Pathol; 2018 Jul; 245(3):283-296. PubMed ID: 29604063 [TBL] [Abstract][Full Text] [Related]
20. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Valle L; Hernández-Illán E; Bellido F; Aiza G; Castillejo A; Castillejo MI; Navarro M; Seguí N; Vargas G; Guarinos C; Juarez M; Sanjuán X; Iglesias S; Alenda C; Egoavil C; Segura Á; Juan MJ; Rodriguez-Soler M; Brunet J; González S; Jover R; Lázaro C; Capellá G; Pineda M; Soto JL; Blanco I Hum Mol Genet; 2014 Jul; 23(13):3506-12. PubMed ID: 24501277 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]