BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 30753826)

  • 1. 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; 35(2):256-266.e5. PubMed ID: 30753826
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
    Weren RD; Ligtenberg MJ; Geurts van Kessel A; De Voer RM; Hoogerbrugge N; Kuiper RP
    J Pathol; 2018 Feb; 244(2):135-142. PubMed ID: 29105096
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 9(1):9020. PubMed ID: 31227763
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 47(6):668-71. PubMed ID: 25938944
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. Prevalence and Characterization of Biallelic and Monoallelic
    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; 5():. PubMed ID: 34250384
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Extending the clinical phenotype associated with biallelic NTHL1 germline mutations.
    Fostira F; Kontopodis E; Apostolou P; Fragkaki M; Androulakis N; Yannoukakos D; Konstantopoulou I; Saloustros E
    Clin Genet; 2018 Dec; 94(6):588-589. PubMed ID: 30248171
    [No Abstract]   [Full Text] [Related]  

  • 9. 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; 131():264-273. PubMed ID: 30552997
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 21(4):453-462. PubMed ID: 35292903
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
    Rabban JT; Chan E; Mak J; Zaloudek C; Garg K
    Am J Surg Pathol; 2019 May; 43(5):639-655. PubMed ID: 30741757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
    Khan N; Lipsa A; Arunachal G; Ramadwar M; Sarin R
    Sci Rep; 2017 May; 7(1):2214. PubMed ID: 28533537
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 373(20):1985-6. PubMed ID: 26559593
    [TBL] [Abstract][Full Text] [Related]  

  • 14. NTHL1 in genomic integrity, aging and cancer.
    Das L; Quintana VG; Sweasy JB
    DNA Repair (Amst); 2020 Sep; 93():102920. PubMed ID: 33087284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 99(2):337-51. PubMed ID: 27476653
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 63(1):e23208. PubMed ID: 37795928
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    Schoolmeester JK; Moyer AM; Goodenberger ML; Keeney GL; Carter JM; Bakkum-Gamez JN
    Hum Pathol; 2017 Dec; 70():14-26. PubMed ID: 28709830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Six case reports of NTHL1-associated tumor syndrome further support it as a multi-tumor predisposition syndrome.
    Weatherill CB; Burke SA; Haskins CG; Berry DK; Homer JP; Demeure MJ; Darabi S
    Clin Genet; 2023 Feb; 103(2):231-235. PubMed ID: 36196035
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
    Carethers JM; Stoffel EM
    World J Gastroenterol; 2015 Aug; 21(31):9253-61. PubMed ID: 26309352
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
    Hansford S; Kaurah P; Li-Chang H; Woo M; Senz J; Pinheiro H; Schrader KA; Schaeffer DF; Shumansky K; Zogopoulos G; Santos TA; Claro I; Carvalho J; Nielsen C; Padilla S; Lum A; Talhouk A; Baker-Lange K; Richardson S; Lewis I; Lindor NM; Pennell E; MacMillan A; Fernandez B; Keller G; Lynch H; Shah SP; Guilford P; Gallinger S; Corso G; Roviello F; Caldas C; Oliveira C; Pharoah PD; Huntsman DG
    JAMA Oncol; 2015 Apr; 1(1):23-32. PubMed ID: 26182300
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.