These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

691 related articles for article (PubMed ID: 21769658)

  • 1. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
    Thomassen M; Blanco A; Montagna M; Hansen TV; Pedersen IS; Gutiérrez-Enríquez S; Menéndez M; Fachal L; Santamariña M; Steffensen AY; Jønson L; Agata S; Whiley P; Tognazzo S; Tornero E; Jensen UB; Balmaña J; Kruse TA; Goldgar DE; Lázaro C; Diez O; Spurdle AB; Vega A
    Breast Cancer Res Treat; 2012 Apr; 132(3):1009-23. PubMed ID: 21769658
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
    Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
    Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
    Vreeswijk MP; Kraan JN; van der Klift HM; Vink GR; Cornelisse CJ; Wijnen JT; Bakker E; van Asperen CJ; Devilee P
    Hum Mutat; 2009 Jan; 30(1):107-14. PubMed ID: 18693280
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
    Menéndez M; Castellsagué J; Mirete M; Pros E; Feliubadaló L; Osorio A; Calaf M; Tornero E; del Valle J; Fernández-Rodríguez J; Quiles F; Salinas M; Velasco A; Teulé A; Brunet J; Blanco I; Capellá G; Lázaro C
    Breast Cancer Res Treat; 2012 Apr; 132(3):979-92. PubMed ID: 21735045
    [TBL] [Abstract][Full Text] [Related]  

  • 5. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
    Campos B; Díez O; Domènech M; Baena M; Balmaña J; Sanz J; Ramírez A; Alonso C; Baiget M
    Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955719
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
    Sanz DJ; Acedo A; Infante M; Durán M; Pérez-Cabornero L; Esteban-Cardeñosa E; Lastra E; Pagani F; Miner C; Velasco EA
    Clin Cancer Res; 2010 Mar; 16(6):1957-67. PubMed ID: 20215541
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    De Leeneer K; Coene I; Crombez B; Simkens J; Van den Broecke R; Bols A; Stragier B; Vanhoutte I; De Paepe A; Poppe B; Claes K
    Breast Cancer Res Treat; 2012 Feb; 132(1):87-95. PubMed ID: 21553119
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.
    Santos C; Peixoto A; Rocha P; Pinto P; Bizarro S; Pinheiro M; Pinto C; Henrique R; Teixeira MR
    J Mol Diagn; 2014 May; 16(3):324-34. PubMed ID: 24607278
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
    Claes K; Poppe B; Machackova E; Coene I; Foretova L; De Paepe A; Messiaen L
    Genes Chromosomes Cancer; 2003 Jul; 37(3):314-20. PubMed ID: 12759930
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
    Montalban G; Bonache S; Moles-Fernández A; Gadea N; Tenés A; Torres-Esquius S; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
    Hum Mutat; 2019 Dec; 40(12):2296-2317. PubMed ID: 31343793
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
    Brandão RD; van Roozendaal K; Tserpelis D; Gómez García E; Blok MJ
    Breast Cancer Res Treat; 2011 Oct; 129(3):971-82. PubMed ID: 21638052
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
    Whiley PJ; de la Hoya M; Thomassen M; Becker A; Brandão R; Pedersen IS; Montagna M; Menéndez M; Quiles F; Gutiérrez-Enríquez S; De Leeneer K; Tenés A; Montalban G; Tserpelis D; Yoshimatsu T; Tirapo C; Raponi M; Caldes T; Blanco A; Santamariña M; Guidugli L; de Garibay GR; Wong M; Tancredi M; Fachal L; Ding YC; Kruse T; Lattimore V; Kwong A; Chan TL; Colombo M; De Vecchi G; Caligo M; Baralle D; Lázaro C; Couch F; Radice P; Southey MC; Neuhausen S; Houdayer C; Fackenthal J; Hansen TV; Vega A; Diez O; Blok R; Claes K; Wappenschmidt B; Walker L; Spurdle AB; Brown MA;
    Clin Chem; 2014 Feb; 60(2):341-52. PubMed ID: 24212087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
    Mucaki EJ; Ainsworth P; Rogan PK
    Hum Mutat; 2011 Jul; 32(7):735-42. PubMed ID: 21523855
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
    Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
    J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.
    Konecny M; Milly M; Zavodna K; Weismanova E; Gregorova J; Mlkva I; Ilencikova D; Kausitz J; Bartosova Z
    Breast Cancer Res Treat; 2011 Feb; 126(1):119-30. PubMed ID: 21203900
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].
    Song CG; Hu Z; Yuan WT; Di GH; Shen ZZ; Huang W; Shao ZM
    Zhonghua Yi Xue Za Zhi; 2005 Nov; 85(43):3030-4. PubMed ID: 16324400
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH.
    Joosse SA; Brandwijk KI; Devilee P; Wesseling J; Hogervorst FB; Verhoef S; Nederlof PM
    Breast Cancer Res Treat; 2012 Apr; 132(2):379-89. PubMed ID: 20614180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
    Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
    Cancer Genet; 2016 Nov; 209(11):487-492. PubMed ID: 27886673
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
    Ahlborn LB; Dandanell M; Steffensen AY; Jønson L; Nielsen FC; Hansen TV
    Breast Cancer Res Treat; 2015 Apr; 150(2):289-98. PubMed ID: 25724305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 35.