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Journal Abstract Search

211 related items for PubMed ID: 33454955

  • 1. Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
    Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
    Clin Genet; 2021 May; 99(5):662-672. PubMed ID: 33454955
    [Abstract] [Full Text] [Related]

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  • 3. NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
    Belhadj S, Quintana I, Mur P, Munoz-Torres PM, Alonso MH, Navarro M, Terradas M, Piñol V, Brunet J, Moreno V, Lázaro C, Capellá G, Valle L.
    Sci Rep; 2019 Jun 21; 9(1):9020. PubMed ID: 31227763
    [Abstract] [Full Text] [Related]

  • 4. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
    Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.
    Cancer Cell; 2019 Feb 11; 35(2):256-266.e5. PubMed ID: 30753826
    [Abstract] [Full Text] [Related]

  • 5. Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
    Beck SH, Jelsig AM, Yassin HM, Lindberg LJ, Wadt KAW, Karstensen JG.
    Fam Cancer; 2022 Oct 11; 21(4):453-462. PubMed ID: 35292903
    [Abstract] [Full Text] [Related]

  • 6. Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
    Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK.
    JCO Precis Oncol; 2021 Oct 11; 5():. PubMed ID: 34250384
    [Abstract] [Full Text] [Related]

  • 7. NTHL1-associate polyposis: first Australian case report.
    Groves A, Gleeson M, Spigelman AD.
    Fam Cancer; 2019 Apr 11; 18(2):179-182. PubMed ID: 30859360
    [Abstract] [Full Text] [Related]

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  • 9. Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.
    Terlouw D, Boot A, Ducarmon QR, Nooij S, Jessurun MA, van Leerdam ME, Tops CM, Langers AMJ, Morreau H, van Wezel T, Nielsen M.
    Genes Chromosomes Cancer; 2024 Jan 11; 63(1):e23208. PubMed ID: 37795928
    [Abstract] [Full Text] [Related]

  • 10. Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine.
    Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Yoshimura K, Nakamura S, Misawa K, Sugimura H.
    Free Radic Biol Med; 2019 Feb 01; 131():264-273. PubMed ID: 30552997
    [Abstract] [Full Text] [Related]

  • 11. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
    Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S.
    Am J Hum Genet; 2016 Aug 04; 99(2):337-51. PubMed ID: 27476653
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  • 12. The role of inherited genetic variants in colorectal polyposis syndromes.
    Short E, Sampson J.
    Adv Genet; 2019 Aug 04; 103():183-217. PubMed ID: 30904095
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  • 13. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
    Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N.
    Nat Genet; 2015 Jun 04; 47(6):668-71. PubMed ID: 25938944
    [Abstract] [Full Text] [Related]

  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Kuiper RP, Nielsen M, De Voer RM, Hoogerbrugge N.
    ; 1993 Jun 04. PubMed ID: 32239880
    [Abstract] [Full Text] [Related]

  • 15. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
    Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L.
    Hum Mutat; 2019 Nov 04; 40(11):1910-1923. PubMed ID: 31243857
    [Abstract] [Full Text] [Related]

  • 16. 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.
    Oncogene; 2021 Oct 04; 40(40):5893-5901. PubMed ID: 34363023
    [Abstract] [Full Text] [Related]

  • 17. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
    Rivera B, Castellsagué E, Bah I, van Kempen LC, Foulkes WD.
    N Engl J Med; 2015 Nov 12; 373(20):1985-6. PubMed ID: 26559593
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  • 19. Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
    Kumpula T, Tervasmäki A, Mantere T, Koivuluoma S, Huilaja L, Tasanen K, Winqvist R, de Voer RM, Pylkäs K.
    Mol Genet Genomic Med; 2020 Nov 12; 8(11):e1493. PubMed ID: 32949222
    [Abstract] [Full Text] [Related]

  • 20. NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?
    Grot N, Kaczmarek-Ryś M, Lis-Tanaś E, Kryszczyńska A, Nowakowska D, Jakubiuk-Tomaszuk A, Paszkowski J, Banasiewicz T, Hryhorowicz S, Pławski A.
    Int J Mol Sci; 2023 Sep 26; 24(19):. PubMed ID: 37834005
    [Abstract] [Full Text] [Related]

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