BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 23170986)

  • 1. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
    Pinheiro M; Pinto C; Peixoto A; Veiga I; Mesquita B; Henrique R; Lopes P; Sousa O; Fragoso M; Dias LM; Baptista M; Marinho C; Mangold E; Vaccaro C; Evans DG; Farrington S; Dunlop MG; Teixeira MR
    Clin Genet; 2013 Sep; 84(3):244-50. PubMed ID: 23170986
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
    Pinheiro M; Francisco I; Pinto C; Peixoto A; Veiga I; Filipe B; Santos C; Maia S; Silva J; Pinto P; Santos R; Claro I; Lage P; Lopes P; Ferreira S; Rosa I; Fonseca R; Rodrigues P; Henrique R; Chaves P; Pereira AD; Brandão C; Albuquerque C; Teixeira MR
    Genes Chromosomes Cancer; 2019 Sep; 58(9):657-664. PubMed ID: 30968502
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
    Pinheiro M; Pinto C; Peixoto A; Veiga I; Mesquita B; Henrique R; Baptista M; Fragoso M; Sousa O; Pereira H; Marinho C; Moreira Dias L; Teixeira MR
    Genet Med; 2011 Oct; 13(10):895-902. PubMed ID: 21785361
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
    Pérez-Cabornero L; Borrás Flores E; Infante Sanz M; Velasco Sampedro E; Acedo Becares A; Lastra Aras E; Cuevas González J; Pineda Riu M; Ramón y Cajal Asensio T; Capellá Munar G; Miner Pino C; Durán Domínguez M
    Cancer Prev Res (Phila); 2011 Oct; 4(10):1546-55. PubMed ID: 21778331
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
    Borelli I; Barberis MA; Spina F; Casalis Cavalchini GC; Vivanet C; Balestrino L; Micheletti M; Allavena A; Sala P; Carcassi C; Pasini B
    Eur J Hum Genet; 2013 Feb; 21(2):154-61. PubMed ID: 22781090
    [TBL] [Abstract][Full Text] [Related]  

  • 6. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
    Vermaut C; Leclerc J; Vasseur F; Wacrenier A; Lovecchio T; Boidin D; Rebergue MH; Cattan S; Manouvrier S; Lejeune S; Buisine MP
    Genes Chromosomes Cancer; 2020 Feb; 59(2):111-118. PubMed ID: 31433521
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
    Menéndez M; Castellví-Bel S; Pineda M; de Cid R; Muñoz J; González S; Teulé A; Balaguer F; Ramón y Cajal T; Reñé JM; Blanco I; Castells A; Capellà G
    Clin Genet; 2010 Aug; 78(2):186-90. PubMed ID: 20095990
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent germline mutation in MSH2 arises frequently de novo.
    Desai DC; Lockman JC; Chadwick RB; Gao X; Percesepe A; Evans DG; Miyaki M; Yuen ST; Radice P; Maher ER; Wright FA; de La Chapelle A
    J Med Genet; 2000 Sep; 37(9):646-52. PubMed ID: 10978353
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
    Mur P; Pineda M; Romero A; Del Valle J; Borràs E; Canal A; Navarro M; Brunet J; Rueda D; Ramón Y Cajal T; Lázaro C; Caldés T; Blanco I; Soto JL; Capellá G
    Clin Genet; 2014 Mar; 85(3):260-6. PubMed ID: 23530899
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
    Pérez-Cabornero L; Infante Sanz M; Velasco Sampedro E; Lastra Aras E; Acedo Becares A; Miner Pino C; Durán Domínguez M
    Cancer Prev Res (Phila); 2011 Oct; 4(10):1556-62. PubMed ID: 21791569
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.
    Froggatt NJ; Green J; Brassett C; Evans DG; Bishop DT; Kolodner R; Maher ER
    J Med Genet; 1999 Feb; 36(2):97-102. PubMed ID: 10051005
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
    Tang R; Hsiung C; Wang JY; Lai CH; Chien HT; Chiu LL; Liu CT; Chen HH; Wang HM; Chen SX; Hsieh LL;
    Clin Genet; 2009 Apr; 75(4):334-45. PubMed ID: 19419416
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Origins and prevalence of the American Founder Mutation of MSH2.
    Clendenning M; Baze ME; Sun S; Walsh K; Liyanarachchi S; Fix D; Schunemann V; Comeras I; Deacon M; Lynch JF; Gong G; Thomas BC; Thibodeau SN; Lynch HT; Hampel H; de la Chapelle A
    Cancer Res; 2008 Apr; 68(7):2145-53. PubMed ID: 18381419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.
    Hiljadnikova-Bajro M; Josifovski T; Panovski M; Dimovski AJ
    Croat Med J; 2012 Oct; 53(5):496-501. PubMed ID: 23100212
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
    von Salomé J; Liu T; Keihäs M; Morak M; Holinski-Feder E; Berry IR; Moilanen JS; Baert-Desurmont S; Lindblom A; Lagerstedt-Robinson K
    Fam Cancer; 2018 Oct; 17(4):531-537. PubMed ID: 29288294
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.
    Alvarez K; Hurtado C; Hevia MA; Wielandt AM; de la Fuente M; Church J; Carvallo P; López-Köstner F
    Dis Colon Rectum; 2010 Apr; 53(4):450-9. PubMed ID: 20305446
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The spectrum of Lynch syndrome-associated germ-line mutations in Russia.
    Yanus GA; Akhapkina TA; Iyevleva AG; Kornilov AV; Suspitsin EN; Kuligina ES; Ivantsov AO; Aleksakhina SN; Sokolova TN; Sokolenko AP; Togo AV; Imyanitov EN
    Eur J Med Genet; 2020 Mar; 63(3):103753. PubMed ID: 31491536
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.
    Ponti G; Manfredini M; Tomasi A; Pellacani G
    Gene; 2016 Sep; 589(2):127-32. PubMed ID: 26143115
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.
    Stella A; Surdo NC; Lastella P; Barana D; Oliani C; Tibiletti MG; Viel A; Natale C; Piepoli A; Marra G; Guanti G
    Clin Genet; 2007 Feb; 71(2):130-9. PubMed ID: 17250661
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
    Lagerstedt-Robinson K; Rohlin A; Aravidis C; Melin B; Nordling M; Stenmark-Askmalm M; Lindblom A; Nilbert M
    Oncol Rep; 2016 Nov; 36(5):2823-2835. PubMed ID: 27601186
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.