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POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
Magrin L, Fanale D, Brando C, Fiorino A, Corsini LR, Sciacchitano R, Filorizzo C, Dimino A, Russo A, Bazan V. Magrin L, et al. Oncogene. 2021 Oct;40(40):5893-5901. doi: 10.1038/s41388-021-01984-2. Epub 2021 Aug 6. Oncogene. 2021. PMID: 34363023 Review.
POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as hereditary cancer-predisposing genes, because their alterations are associated with colorectal cancer and other tumors. ...Endometrial and breast cancers, and p …
POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as hereditary cancer-predisposing gen …
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. Mur P, et al. Genet Med. 2020 Dec;22(12):2089-2100. doi: 10.1038/s41436-020-0922-2. Epub 2020 Aug 14. Genet Med. 2020. PMID: 32792570 Free PMC article.
The tumor spectrum and prevalence of POLE and POLD1 variants in hereditary cancer are evaluated in this study. METHODS: POLE and POLD1 were sequenced in 2813 unrelated probands referred for genetic counseling (2309 hereditary cancer patients subjected …
The tumor spectrum and prevalence of POLE and POLD1 variants in hereditary cancer are evaluated in this study. METHODS: POLE a …
DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC.
Wang Y, Ju L, Wang G, Qian K, Jin W, Li M, Yu J, Shi Y, Wang Y, Zhang Y, Xiao Y, Wang X. Wang Y, et al. Nat Commun. 2023 Apr 27;14(1):2421. doi: 10.1038/s41467-023-38160-x. Nat Commun. 2023. PMID: 37105989 Free PMC article.
However, the implications of high POLD1 expression in tumorigenesis remains elusive. Here, we determine that POLD1 has a pro-carcinogenic role in bladder cancer (BLCA) and is associated to the malignancy and prognosis of BLCA. ...In turn, MYC increases expres …
However, the implications of high POLD1 expression in tumorigenesis remains elusive. Here, we determine that POLD1 has a pro-c …
Evaluation of POLE and POLD1 Mutations as Biomarkers for Immunotherapy Outcomes Across Multiple Cancer Types.
Wang F, Zhao Q, Wang YN, Jin Y, He MM, Liu ZX, Xu RH. Wang F, et al. JAMA Oncol. 2019 Oct 1;5(10):1504-1506. doi: 10.1001/jamaoncol.2019.2963. JAMA Oncol. 2019. PMID: 31415061 Free PMC article.
This cohort study analyzes the medical records of 47 721 patients with various cancer types with POLE/POLD1 mutations to evaluate whether the mutations were associated with immunotherapy outcomes....
This cohort study analyzes the medical records of 47 721 patients with various cancer types with POLE/POLD1 mutations to evalu …
POLE/POLD1 mutation and tumor immunotherapy.
Ma X, Dong L, Liu X, Ou K, Yang L. Ma X, et al. J Exp Clin Cancer Res. 2022 Jul 2;41(1):216. doi: 10.1186/s13046-022-02422-1. J Exp Clin Cancer Res. 2022. PMID: 35780178 Free PMC article. Review.
POLE/POLD1 exonuclease domain mutations lead to loss of proofreading function, which causes the accumulation of mutant genes in cells. ...This article reviews the function of POLE/POLD1, its relationship with deficient mismatch repair/high microsatellite instability …
POLE/POLD1 exonuclease domain mutations lead to loss of proofreading function, which causes the accumulation of mutant genes in cells …
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G. Rebuzzi F, et al. Int J Mol Sci. 2023 Jan 21;24(3):2137. doi: 10.3390/ijms24032137. Int J Mol Sci. 2023. PMID: 36768460 Free PMC article. Review.
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this malignancy. ...Moreover, the recent advances in molecular techniques, in particular Next-Generation Sequencing, have led to the identifi …
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of t …
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A. Campbell BB, et al. Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19. Cell. 2017. PMID: 29056344 Free PMC article.
Unbiased clustering, based on mutational context, revealed clinically relevant subgroups regardless of the tumors' tissue of origin, highlighting similarities in evolutionary dynamics leading to hypermutation. Mutagens, such as UV light, were implicated in unexpected cancers …
Unbiased clustering, based on mutational context, revealed clinically relevant subgroups regardless of the tumors' tissue of origin, highlig …
Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer.
Anurag M, Jaehnig EJ, Krug K, Lei JT, Bergstrom EJ, Kim BJ, Vashist TD, Huynh AMT, Dou Y, Gou X, Huang C, Shi Z, Wen B, Korchina V, Gibbs RA, Muzny DM, Doddapaneni H, Dobrolecki LE, Rodriguez H, Robles AI, Hiltke T, Lewis MT, Nangia JR, Nemati Shafaee M, Li S, Hagemann IS, Hoog J, Lim B, Osborne CK, Mani DR, Gillette MA, Zhang B, Echeverria GV, Miles G, Rimawi MF, Carr SA, Ademuyiwa FO, Satpathy S, Ellis MJ. Anurag M, et al. Cancer Discov. 2022 Nov 2;12(11):2586-2605. doi: 10.1158/2159-8290.CD-22-0200. Cancer Discov. 2022. PMID: 36001024 Free PMC article.
Microscaled proteogenomics was deployed to probe the molecular basis for differential response to neoadjuvant carboplatin and docetaxel combination chemotherapy for triple-negative breast cancer (TNBC). Proteomic analyses of pretreatment patient biopsies uniquely revealed …
Microscaled proteogenomics was deployed to probe the molecular basis for differential response to neoadjuvant carboplatin and docetaxel comb …
POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab.
Wei CH, Wang EW, Ma L, Zhou Y, Zheng L, Hampel H, Shehayeb S, Lee S, Cohen J, Kohut A, Fan F, Rosen S, Wu X, Shen B, Zhao Y. Wei CH, et al. Cancers (Basel). 2023 Nov 30;15(23):5674. doi: 10.3390/cancers15235674. Cancers (Basel). 2023. PMID: 38067377 Free PMC article.
BACKGROUND: Mutations in the DNA polymerase delta 1 (POLD1) exonuclease domain cause DNA proofreading defects, hypermutation, hereditary colorectal and endometrial cancer, and are predictive of immunotherapy response. ...A POLD1-specific mutational signature …
BACKGROUND: Mutations in the DNA polymerase delta 1 (POLD1) exonuclease domain cause DNA proofreading defects, hypermutation, heredit …
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; CORGI Consortium; WGS500 Consortium; 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. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. ...The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser …
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutati …
266 results