BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 18712473)

  • 1. The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.
    Gutiérrez-Enríquez S; Coderch V; Masas M; Balmaña J; Diez O
    Breast Cancer Res Treat; 2009 Sep; 117(2):461-5. PubMed ID: 18712473
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. RNA-based analysis of BRCA1 and BRCA2 gene alterations.
    Bonatti F; Pepe C; Tancredi M; Lombardi G; Aretini P; Sensi E; Falaschi E; Cipollini G; Bevilacqua G; Caligo MA
    Cancer Genet Cytogenet; 2006 Oct; 170(2):93-101. PubMed ID: 17011978
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.
    Infante M; Durán M; Acedo A; Pérez-Cabornero L; Sanz DJ; García-González M; Beristain E; Esteban-Cardeñosa E; de la Hoya M; Teulé A; Vega A; Tejada MI; Lastra E; Miner C; Velasco EA
    Clin Genet; 2010 Jan; 77(1):60-9. PubMed ID: 19912264
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.
    Hansen Tv; Jønson L; Albrechtsen A; Andersen MK; Ejlertsen B; Nielsen FC
    Breast Cancer Res Treat; 2009 May; 115(2):315-23. PubMed ID: 18546071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
    Beristain E; Martínez-Bouzas C; Guerra I; Viguera N; Moreno J; Ibañez E; Díez J; Rodríguez F; Mallabiabarrena G; Luján S; Gorostiaga J; De Pablo JL; Mendizabal JL; Tejada MI
    Breast Cancer Res Treat; 2007 Dec; 106(2):255-62. PubMed ID: 17262179
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.
    Preisler-Adams S; Schönbuchner I; Fiebig B; Welling B; Dworniczak B; Weber BH
    Cancer Genet Cytogenet; 2006 Jul; 168(1):44-9. PubMed ID: 16772120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
    Millevoi S; Bernat S; Telly D; Fouque F; Gladieff L; Favre G; Vagner S; Toulas C
    Breast Cancer Res Treat; 2010 Apr; 120(2):391-9. PubMed ID: 19404736
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
    Tesoriero AA; Wong EM; Jenkins MA; Hopper JL; Brown MA; Chenevix-Trench G; Spurdle AB; Southey MC;
    Hum Mutat; 2005 Nov; 26(5):495. PubMed ID: 16211554
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
    Jakubowska A; Górski B; Byrski T; Huzarski T; Gronwald J; Menkiszak J; Cybulski C; Debniak T; Hadaczek P; Scott RJ; Lubinski J
    Hum Mutat; 2001 Aug; 18(2):149-56. PubMed ID: 11462239
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.
    Southey MC; Tesoriero A; Young MA; Holloway AJ; Jenkins MA; Whitty J; Misfud S; kConFab ; McLachlan SA; Venter DJ; Armes JE
    Hum Mutat; 2003 Jul; 22(1):86-91. PubMed ID: 12815598
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.
    Hansen TV; Steffensen AY; Jønson L; Andersen MK; Ejlertsen B; Nielsen FC
    Breast Cancer Res Treat; 2010 Feb; 119(3):547-50. PubMed ID: 19267246
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.
    Milne RL; Osorio A; Cajal TR; Vega A; Llort G; de la Hoya M; Díez O; Alonso MC; Lazaro C; Blanco I; Sánchez-de-Abajo A; Caldés T; Blanco A; Graña B; Durán M; Velasco E; Chirivella I; Cardeñosa EE; Tejada MI; Beristain E; Miramar MD; Calvo MT; Martínez E; Guillén C; Salazar R; San Román C; Antoniou AC; Urioste M; Benítez J
    Clin Cancer Res; 2008 May; 14(9):2861-9. PubMed ID: 18451254
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and in silico analysis of BRCA1 and BRCA2 variants.
    Tommasi S; Pilato B; Pinto R; Monaco A; Bruno M; Campana M; Digennaro M; Schittulli F; Lacalamita R; Paradiso A
    Mutat Res; 2008 Sep; 644(1-2):64-70. PubMed ID: 18694767
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
    Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
    J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
    [TBL] [Abstract][Full Text] [Related]  

  • 20. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.
    Ratajska M; Brozek I; Senkus-Konefka E; Jassem J; Stepnowska M; Palomba G; Pisano M; Casula M; Palmieri G; Borg A; Limon J
    Oncol Rep; 2008 Jan; 19(1):263-8. PubMed ID: 18097605
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.