141 related articles for article (PubMed ID: 34285382)
1. Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.
Mur P; Magraner-Pardo L; García-Mulero S; Díez-Villanueva A; Del Valle J; Ezquerro E; Lázaro C; Capellá G; Moreno V; Sanz-Pamplona R; Pons T; Valle L
Eur J Hum Genet; 2022 Apr; 30(4):485-489. PubMed ID: 34285382
[TBL] [Abstract][Full Text] [Related]
2. Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Elsayed FA; Tops CMJ; Nielsen M; Ruano D; Vasen HFA; Morreau H; J Hes F; van Wezel T
Mol Genet Genomic Med; 2019 Apr; 7(4):e00603. PubMed ID: 30827058
[TBL] [Abstract][Full Text] [Related]
3. POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.
Siraj AK; Bu R; Iqbal K; Parvathareddy SK; Masoodi T; Siraj N; Al-Rasheed M; Kong Y; Ahmed SO; Al-Obaisi KAS; Victoria IG; Arshad M; Al-Dayel F; Abduljabbar A; Ashari LH; Al-Kuraya KS
Mol Genet Genomic Med; 2020 Aug; 8(8):e1368. PubMed ID: 32567205
[TBL] [Abstract][Full Text] [Related]
4. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Esteban-Jurado C; Giménez-Zaragoza D; Muñoz J; Franch-Expósito S; Álvarez-Barona M; Ocaña T; Cuatrecasas M; Carballal S; López-Cerón M; Marti-Solano M; Díaz-Gay M; van Wezel T; Castells A; Bujanda L; Balmaña J; Gonzalo V; Llort G; Ruiz-Ponte C; Cubiella J; Balaguer F; Aligué R; Castellví-Bel S
Oncotarget; 2017 Apr; 8(16):26732-26743. PubMed ID: 28423643
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Role of POLE and POLD1 in familial cancer.
Mur P; García-Mulero S; Del Valle J; Magraner-Pardo L; Vidal A; Pineda M; Cinnirella G; Martín-Ramos E; Pons T; López-Doriga A; Belhadj S; Feliubadaló L; Munoz-Torres PM; Navarro M; Grau E; Darder E; Llort G; Sanz J; Ramón Y Cajal T; Balmana J; Brunet J; Moreno V; Piulats JM; Matías-Guiu X; Sanz-Pamplona R; Aligué R; Capellá G; Lázaro C; Valle L
Genet Med; 2020 Dec; 22(12):2089-2100. PubMed ID: 32792570
[TBL] [Abstract][Full Text] [Related]
7. Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P; Viana-Errasti J; García-Mulero S; Magraner-Pardo L; Muñoz IG; Pons T; Capellá G; Pineda M; Feliubadaló L; Valle L
Genome Med; 2023 Oct; 15(1):85. PubMed ID: 37848928
[TBL] [Abstract][Full Text] [Related]
8. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN; Briggs SE; Palles C; Domingo E; Kearsey SJ; Grimes JM; Gorman M; Martin L; Howarth KM; Hodgson SV; ; Kaur K; Taylor J; Tomlinson IP
Hum Mol Genet; 2013 Jul; 22(14):2820-8. PubMed ID: 23528559
[TBL] [Abstract][Full Text] [Related]
9. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido F; Pineda M; Aiza G; Valdés-Mas R; Navarro M; Puente DA; Pons T; González S; Iglesias S; Darder E; Piñol V; Soto JL; Valencia A; Blanco I; Urioste M; Brunet J; Lázaro C; Capellá G; Puente XS; Valle L
Genet Med; 2016 Apr; 18(4):325-32. PubMed ID: 26133394
[TBL] [Abstract][Full Text] [Related]
10. POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Rosner G; Gluck N; Carmi S; Bercovich D; Fliss-Issakov N; Ben-Yehoyada M; Aharon-Caspi S; Kellerman E; Strul H; Shibolet O; Kariv R
Dis Colon Rectum; 2018 Sep; 61(9):1073-1079. PubMed ID: 30086056
[TBL] [Abstract][Full Text] [Related]
11. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD; Stewart JR; Clendenning M; Rosty C; Mahmood K; Pope BJ; Jenkins MA; Hopper JL; Southey MC; Macrae FA; Winship IM; Win AK
Genet Med; 2018 Aug; 20(8):890-895. PubMed ID: 29120461
[TBL] [Abstract][Full Text] [Related]
12. Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.
Briggs S; Tomlinson I
J Pathol; 2013 Jun; 230(2):148-53. PubMed ID: 23447401
[TBL] [Abstract][Full Text] [Related]
13. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Elsayed FA; Kets CM; Ruano D; van den Akker B; Mensenkamp AR; Schrumpf M; Nielsen M; Wijnen JT; Tops CM; Ligtenberg MJ; Vasen HF; Hes FJ; Morreau H; van Wezel T
Eur J Hum Genet; 2015 Aug; 23(8):1080-4. PubMed ID: 25370038
[TBL] [Abstract][Full Text] [Related]
14. The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C; Martin L; Domingo E; Chegwidden L; McGuire J; Cuthill V; Heitzer E; ; Kerr R; Kerr D; Kearsey S; Clark SK; Tomlinson I; Latchford A
Fam Cancer; 2022 Apr; 21(2):197-209. PubMed ID: 33948826
[TBL] [Abstract][Full Text] [Related]
15. Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM; Krönke N; Volk V; Auber B; Förster A; Trost D; Geffers R; Esmaeilzadeh M; Lalk M; Nabavi A; Samii A; Krauss JK; Feuerhake F; Hartmann C; Wiese B; Brand F; Weber RG
Acta Neuropathol Commun; 2023 Nov; 11(1):184. PubMed ID: 37990341
[TBL] [Abstract][Full Text] [Related]
16. The burden of faulty proofreading in colon cancer.
Seshagiri S
Nat Genet; 2013 Feb; 45(2):121-2. PubMed ID: 23358219
[TBL] [Abstract][Full Text] [Related]
17. POLE/POLD1 mutation and tumor immunotherapy.
Ma X; Dong L; Liu X; Ou K; Yang L
J Exp Clin Cancer Res; 2022 Jul; 41(1):216. PubMed ID: 35780178
[TBL] [Abstract][Full Text] [Related]
18. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
Jansen AM; van Wezel T; van den Akker BE; Ventayol Garcia M; Ruano D; Tops CM; Wagner A; Letteboer TG; Gómez-García EB; Devilee P; Wijnen JT; Hes FJ; Morreau H
Eur J Hum Genet; 2016 Jul; 24(7):1089-92. PubMed ID: 26648449
[TBL] [Abstract][Full Text] [Related]
19. High mutational burden in colorectal carcinomas with monoallelic POLE mutations: absence of allelic loss and gene promoter methylation.
Hühns M; Nürnberg S; Kandashwamy KK; Maletzki C; Bauer P; Prall F
Mod Pathol; 2020 Jun; 33(6):1220-1231. PubMed ID: 31857678
[TBL] [Abstract][Full Text] [Related]
20. Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N; Alarcon F; Leulliot N; Guimbaud R; Buecher B; Colas C; Corsini C; Nuel G; Terris B; Laurent-Puig P; Chaussade S; Dhooge M; Madru C; Clauser E
Genet Med; 2020 Sep; 22(9):1533-1541. PubMed ID: 32424176
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
