BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

612 related articles for article (PubMed ID: 31494577)

  • 1. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
    González-Acosta M; Marín F; Puliafito B; Bonifaci N; Fernández A; Navarro M; Salvador H; Balaguer F; Iglesias S; Velasco A; Grau Garces E; Moreno V; Gonzalez-Granado LI; Guerra-García P; Ayala R; Florkin B; Kratz C; Ripperger T; Rosenbaum T; Januszkiewicz-Lewandowska D; Azizi AA; Ragab I; Nathrath M; Pander HJ; Lobitz S; Suerink M; Dahan K; Imschweiler T; Demirsoy U; Brunet J; Lázaro C; Rueda D; Wimmer K; Capellá G; Pineda M
    J Med Genet; 2020 Apr; 57(4):269-273. PubMed ID: 31494577
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
    Bodo S; Colas C; Buhard O; Collura A; Tinat J; Lavoine N; Guilloux A; Chalastanis A; Lafitte P; Coulet F; Buisine MP; Ilencikova D; Ruiz-Ponte C; Kinzel M; Grandjouan S; Brems H; Lejeune S; Blanché H; Wang Q; Caron O; Cabaret O; Svrcek M; Vidaud D; Parfait B; Verloes A; Knappe UJ; Soubrier F; Mortemousque I; Leis A; Auclair-Perrossier J; Frébourg T; Fléjou JF; Entz-Werle N; Leclerc J; Malka D; Cohen-Haguenauer O; Goldberg Y; Gerdes AM; Fedhila F; Mathieu-Dramard M; Hamelin R; Wafaa B; Gauthier-Villars M; Bourdeaut F; Sheridan E; Vasen H; Brugières L; Wimmer K; Muleris M; Duval A;
    Gastroenterology; 2015 Oct; 149(4):1017-29.e3. PubMed ID: 26116798
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
    Marín F; Canet-Hermida J; Bianchi V; Chung J; Wimmer K; Foulkes W; Pérez-Alonso V; Domínguez-Pinilla N; Sábado C; Vázquez-Gómez F; Molinés A; Fioravantti V; Carrasco E; Stengs L; Edwards M; Negm L; Das A; Aronson M; Pastor Á; Rueda D; González-Granado LI; Tabori U; Capellá G; Pineda M
    Clin Chem; 2024 May; 70(5):737-746. PubMed ID: 38531023
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
    Gallon R; Phelps R; Hayes C; Brugieres L; Guerrini-Rousseau L; Colas C; Muleris M; Ryan NAJ; Evans DG; Grice H; Jessop E; Kunzemann-Martinez A; Marshall L; Schamschula E; Oberhuber K; Azizi AA; Baris Feldman H; Beilken A; Brauer N; Brozou T; Dahan K; Demirsoy U; Florkin B; Foulkes W; Januszkiewicz-Lewandowska D; Jones KJ; Kratz CP; Lobitz S; Meade J; Nathrath M; Pander HJ; Perne C; Ragab I; Ripperger T; Rosenbaum T; Rueda D; Sarosiek T; Sehested A; Spier I; Suerink M; Zimmermann SY; Zschocke J; Borthwick GM; Wimmer K; Burn J; Jackson MS; Santibanez-Koref M
    Gastroenterology; 2023 Apr; 164(4):579-592.e8. PubMed ID: 36586540
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
    Ingham D; Diggle CP; Berry I; Bristow CA; Hayward BE; Rahman N; Markham AF; Sheridan EG; Bonthron DT; Carr IM
    Hum Mutat; 2013 Jun; 34(6):847-52. PubMed ID: 23483711
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
    Shuen AY; Lanni S; Panigrahi GB; Edwards M; Yu L; Campbell BB; Mandel A; Zhang C; Zhukova N; Alharbi M; Bernstein M; Bowers DC; Carroll S; Cole KA; Constantini S; Crooks B; Dvir R; Farah R; Hijiya N; George B; Laetsch TW; Larouche V; Lindhorst S; Luiten RC; Magimairajan V; Mason G; Mason W; Mordechai O; Mushtaq N; Nicholas G; Oren M; Palma L; Pedroza LA; Ramdas J; Samuel D; Wolfe Schneider K; Seeley A; Semotiuk K; Shamvil A; Sumerauer D; Toledano H; Tomboc P; Wierman M; Van Damme A; Lee YY; Zapotocky M; Bouffet E; Durno C; Aronson M; Gallinger S; Foulkes WD; Malkin D; Tabori U; Pearson CE
    J Clin Oncol; 2019 Feb; 37(6):461-470. PubMed ID: 30608896
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
    Mensenkamp AR; Vogelaar IP; van Zelst-Stams WA; Goossens M; Ouchene H; Hendriks-Cornelissen SJ; Kwint MP; Hoogerbrugge N; Nagtegaal ID; Ligtenberg MJ
    Gastroenterology; 2014 Mar; 146(3):643-646.e8. PubMed ID: 24333619
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.
    Kiyozumi Y; Matsubayashi H; Horiuchi Y; Higashigawa S; Oishi T; Abe M; Ohnami S; Urakami K; Nagashima T; Kusuhara M; Miyake H; Yamaguchi K
    Cancer Med; 2019 Sep; 8(12):5534-5543. PubMed ID: 31386297
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
    Leenen CH; Geurts-Giele WR; Dubbink HJ; Reddingius R; van den Ouweland AM; Tops CM; van de Klift HM; Kuipers EJ; van Leerdam ME; Dinjens WN; Wagner A
    Clin Genet; 2011 Dec; 80(6):558-65. PubMed ID: 21204794
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
    Leenders EKSM; Westdorp H; Brüggemann RJ; Loeffen J; Kratz C; Burn J; Hoogerbrugge N; Jongmans MCJ
    Eur J Hum Genet; 2018 Oct; 26(10):1417-1423. PubMed ID: 29904176
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Constitutional MMR deficiency: Genetic bases and clinical implications].
    Buecher B; Le Mentec M; Doz F; Bourdeaut F; Gauthier-Villars M; Stoppa-Lyonnet D; Colas C
    Bull Cancer; 2019 Feb; 106(2):162-172. PubMed ID: 30551794
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
    Baris HN; Barnes-Kedar I; Toledano H; Halpern M; Hershkovitz D; Lossos A; Lerer I; Peretz T; Kariv R; Cohen S; Half EE; Magal N; Drasinover V; Wimmer K; Goldberg Y; Bercovich D; Levi Z
    Pediatr Blood Cancer; 2016 Mar; 63(3):418-27. PubMed ID: 26544533
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
    van der Klift HM; Mensenkamp AR; Drost M; Bik EC; Vos YJ; Gille HJ; Redeker BE; Tiersma Y; Zonneveld JB; García EG; Letteboer TG; Olderode-Berends MJ; van Hest LP; van Os TA; Verhoef S; Wagner A; van Asperen CJ; Ten Broeke SW; Hes FJ; de Wind N; Nielsen M; Devilee P; Ligtenberg MJ; Wijnen JT; Tops CM
    Hum Mutat; 2016 Nov; 37(11):1162-1179. PubMed ID: 27435373
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
    Bakry D; Aronson M; Durno C; Rimawi H; Farah R; Alharbi QK; Alharbi M; Shamvil A; Ben-Shachar S; Mistry M; Constantini S; Dvir R; Qaddoumi I; Gallinger S; Lerner-Ellis J; Pollett A; Stephens D; Kelies S; Chao E; Malkin D; Bouffet E; Hawkins C; Tabori U
    Eur J Cancer; 2014 Mar; 50(5):987-96. PubMed ID: 24440087
    [TBL] [Abstract][Full Text] [Related]  

  • 15. BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines.
    Molinari F; Signoroni S; Lampis A; Bertan C; Perrone F; Sala P; Mondini P; Crippa S; Bertario L; Frattini M
    Tumori; 2014; 100(3):315-20. PubMed ID: 25076244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
    Sheng JQ; Chan TL; Chan YW; Huang JS; Chen JG; Zhang MZ; Guo XL; Mu H; Chan AS; Li SR; Yuen ST; Leung SY
    Chin J Dig Dis; 2006; 7(4):197-205. PubMed ID: 17054581
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
    Gallon R; Mühlegger B; Wenzel SS; Sheth H; Hayes C; Aretz S; Dahan K; Foulkes W; Kratz CP; Ripperger T; Azizi AA; Baris Feldman H; Chong AL; Demirsoy U; Florkin B; Imschweiler T; Januszkiewicz-Lewandowska D; Lobitz S; Nathrath M; Pander HJ; Perez-Alonso V; Perne C; Ragab I; Rosenbaum T; Rueda D; Seidel MG; Suerink M; Taeubner J; Zimmermann SY; Zschocke J; Borthwick GM; Burn J; Jackson MS; Santibanez-Koref M; Wimmer K
    Hum Mutat; 2019 May; 40(5):649-655. PubMed ID: 30740824
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.
    Pérez-Carbonell L; Ruiz-Ponte C; Guarinos C; Alenda C; Payá A; Brea A; Egoavil CM; Castillejo A; Barberá VM; Bessa X; Xicola RM; Rodríguez-Soler M; Sánchez-Fortún C; Acame N; Castellví-Bel S; Piñol V; Balaguer F; Bujanda L; De-Castro ML; Llor X; Andreu M; Carracedo A; Soto JL; Castells A; Jover R
    Gut; 2012 Jun; 61(6):865-72. PubMed ID: 21868491
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
    Buchanan DD; Clendenning M; Rosty C; Eriksen SV; Walsh MD; Walters RJ; Thibodeau SN; Stewart J; Preston S; Win AK; Flander L; Ouakrim DA; Macrae FA; Boussioutas A; Winship IM; Giles GG; Hopper JL; Southey MC; English D; Jenkins MA
    J Gastroenterol Hepatol; 2017 Feb; 32(2):427-438. PubMed ID: 27273229
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
    Tabori U; Hansford JR; Achatz MI; Kratz CP; Plon SE; Frebourg T; Brugières L
    Clin Cancer Res; 2017 Jun; 23(11):e32-e37. PubMed ID: 28572265
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 31.