BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 22736432)

  • 1. Comprehensive functional assessment of MLH1 variants of unknown significance.
    Borràs E; Pineda M; Brieger A; Hinrichsen I; Gómez C; Navarro M; Balmaña J; Ramón y Cajal T; Torres A; Brunet J; Blanco I; Plotz G; Lázaro C; Capellá G
    Hum Mutat; 2012 Nov; 33(11):1576-88. PubMed ID: 22736432
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
    Pineda M; González-Acosta M; Thompson BA; Sánchez R; Gómez C; Martínez-López J; Perea J; Caldés T; Rodríguez Y; Landolfi S; Balmaña J; Lázaro C; Robles L; Capellá G; Rueda D
    Clin Genet; 2015 Jun; 87(6):543-8. PubMed ID: 25060679
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
    Hinrichsen I; Schäfer D; Langer D; Köger N; Wittmann M; Aretz S; Steinke V; Holzapfel S; Trojan J; König R; Zeuzem S; Brieger A; Plotz G
    Carcinogenesis; 2015 Feb; 36(2):202-11. PubMed ID: 25477341
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
    Borràs E; Pineda M; Cadiñanos J; Del Valle J; Brieger A; Hinrichsen I; Cabanillas R; Navarro M; Brunet J; Sanjuan X; Musulen E; van der Klift H; Lázaro C; Plotz G; Blanco I; Capellá G
    J Med Genet; 2013 Aug; 50(8):552-63. PubMed ID: 23709753
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
    Hinrichsen I; Brieger A; Trojan J; Zeuzem S; Nilbert M; Plotz G
    Clin Cancer Res; 2013 May; 19(9):2432-41. PubMed ID: 23403630
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
    Andersen SD; Liberti SE; Lützen A; Drost M; Bernstein I; Nilbert M; Dominguez M; Nyström M; Hansen TV; Christoffersen JW; Jäger AC; de Wind N; Nielsen FC; Tørring PM; Rasmussen LJ
    Hum Mutat; 2012 Dec; 33(12):1647-55. PubMed ID: 22753075
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.
    Farrell MP; Hughes DJ; Drost M; Wallace AJ; Cummins RJ; Fletcher TA; Meany MA; Kay EW; de Wind N; Power DG; Andrews EJ; Green AJ; Gallagher DJ
    Fam Cancer; 2013 Dec; 12(4):741-7. PubMed ID: 23712482
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
    Kosinski J; Hinrichsen I; Bujnicki JM; Friedhoff P; Plotz G
    Hum Mutat; 2010 Aug; 31(8):975-82. PubMed ID: 20533529
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
    Bouvet D; Bodo S; Munier A; Guillerm E; Bertrand R; Colas C; Duval A; Coulet F; Muleris M
    Gastroenterology; 2019 Aug; 157(2):421-431. PubMed ID: 30998989
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
    Pérez-Cabornero L; Infante M; Velasco E; Lastra E; Miner C; Durán M
    J Mol Diagn; 2013 May; 15(3):380-90. PubMed ID: 23523604
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
    Kansikas M; Kariola R; Nyström M
    Hum Mutat; 2011 Jan; 32(1):107-15. PubMed ID: 21120944
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
    Lagerstedt Robinson K; Liu T; Vandrovcova J; Halvarsson B; Clendenning M; Frebourg T; Papadopoulos N; Kinzler KW; Vogelstein B; Peltomäki P; Kolodner RD; Nilbert M; Lindblom A
    J Natl Cancer Inst; 2007 Feb; 99(4):291-9. PubMed ID: 17312306
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
    Belvederesi L; Bianchi F; Loretelli C; Gagliardini D; Galizia E; Bracci R; Rosati S; Bearzi I; Viel A; Cellerino R; Porfiri E
    Eur J Hum Genet; 2006 Jul; 14(7):853-9. PubMed ID: 16724012
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
    Nyström-Lahti M; Perrera C; Räschle M; Panyushkina-Seiler E; Marra G; Curci A; Quaresima B; Costanzo F; D'Urso M; Venuta S; Jiricny J
    Genes Chromosomes Cancer; 2002 Feb; 33(2):160-7. PubMed ID: 11793442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
    Borràs E; Pineda M; Blanco I; Jewett EM; Wang F; Teulé A; Caldés T; Urioste M; Martínez-Bouzas C; Brunet J; Balmaña J; Torres A; Ramón y Cajal T; Sanz J; Pérez-Cabornero L; Castellví-Bel S; Alonso A; Lanas A; González S; Moreno V; Gruber SB; Rosenberg NA; Mukherjee B; Lázaro C; Capellá G
    Cancer Res; 2010 Oct; 70(19):7379-91. PubMed ID: 20858721
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
    Hesson LB; Packham D; Kwok CT; Nunez AC; Ng B; Schmidt C; Fields M; Wong JW; Sloane MA; Ward RL
    Hum Mutat; 2015 Jun; 36(6):622-30. PubMed ID: 25762362
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.
    Steinke V; Holzapfel S; Loeffler M; Holinski-Feder E; Morak M; Schackert HK; Görgens H; Pox C; Royer-Pokora B; von Knebel-Doeberitz M; Büttner R; Propping P; Engel C;
    Int J Cancer; 2014 Jul; 135(1):69-77. PubMed ID: 24493211
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
    Rahner N; Friedrichs N; Steinke V; Aretz S; Friedl W; Buettner R; Mangold E; Propping P; Walldorf C
    J Pathol; 2008 Jan; 214(1):10-6. PubMed ID: 17973250
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
    Chao EC; Velasquez JL; Witherspoon MS; Rozek LS; Peel D; Ng P; Gruber SB; Watson P; Rennert G; Anton-Culver H; Lynch H; Lipkin SM
    Hum Mutat; 2008 Jun; 29(6):852-60. PubMed ID: 18383312
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
    Drost M; Zonneveld Je; van Dijk L; Morreau H; Tops CM; Vasen HF; Wijnen JT; de Wind N
    Hum Mutat; 2010 Mar; 31(3):247-53. PubMed ID: 20020535
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.