BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 19123044)

  • 1. Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.
    Santos C; Peixoto A; Rocha P; Vega A; Soares MJ; Cerveira N; Bizarro S; Pinheiro M; Pereira D; Rodrigues H; Castro F; Henrique R; Teixeira MR
    Fam Cancer; 2009; 8(3):203-8. PubMed ID: 19123044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
    Vega A; Campos B; Bressac-De-Paillerets B; Bond PM; Janin N; Douglas FS; Domènech M; Baena M; Pericay C; Alonso C; Carracedo A; Baiget M; Diez O
    Hum Mutat; 2001 Jun; 17(6):520-1. PubMed ID: 11385711
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.
    Claes K; Vandesompele J; Poppe B; Dahan K; Coene I; De Paepe A; Messiaen L
    Oncogene; 2002 Jun; 21(26):4171-5. PubMed ID: 12037674
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
    Tuazon AMA; Lott P; Bohórquez M; Benavides J; Ramirez C; Criollo A; Estrada-Florez A; Mateus G; Velez A; Carmona J; Olaya J; Garcia E; Polanco-Echeverry G; Stultz J; Alvarez C; Tapia T; Ashton-Prolla P; ; Vega A; Lazaro C; Tornero E; Martinez-Bouzas C; Infante M; De La Hoya M; Diez O; Browning BL; ; Rannala B; Teixeira MR; Carvallo P; Echeverry M; Carvajal-Carmona LG
    Breast Cancer Res; 2020 Oct; 22(1):108. PubMed ID: 33087180
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families.
    Xu CF; Chambers JA; Nicolai H; Brown MA; Hujeirat Y; Mohammed S; Hodgson S; Kelsell DP; Spurr NK; Bishop DT; Solomon E
    Genes Chromosomes Cancer; 1997 Feb; 18(2):102-10. PubMed ID: 9115959
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
    Rohlfs EM; Puget N; Graham ML; Weber BL; Garber JE; Skrzynia C; Halperin JL; Lenoir GM; Silverman LM; Mazoyer S
    Genes Chromosomes Cancer; 2000 Jul; 28(3):300-7. PubMed ID: 10862036
    [TBL] [Abstract][Full Text] [Related]  

  • 7. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
    Peixoto A; Santos C; Pinheiro M; Pinto P; Soares MJ; Rocha P; Gusmão L; Amorim A; van der Hout A; Gerdes AM; Thomassen M; Kruse TA; Cruger D; Sunde L; Bignon YJ; Uhrhammer N; Cornil L; Rouleau E; Lidereau R; Yannoukakos D; Pertesi M; Narod S; Royer R; Costa MM; Lazaro C; Feliubadaló L; Graña B; Blanco I; de la Hoya M; Caldés T; Maillet P; Benais-Pont G; Pardo B; Laitman Y; Friedman E; Velasco EA; Durán M; Miramar MD; Valle AR; Calvo MT; Vega A; Blanco A; Diez O; Gutiérrez-Enríquez S; Balmaña J; Ramon y Cajal T; Alonso C; Baiget M; Foulkes W; Tischkowitz M; Kyle R; Sabbaghian N; Ashton-Prolla P; Ewald IP; Rajkumar T; Mota-Vieira L; Giannini G; Gulino A; Achatz MI; Carraro DM; de Paillerets BB; Remenieras A; Benson C; Casadei S; King MC; Teugels E; Teixeira MR
    Breast Cancer Res Treat; 2011 Jun; 127(3):671-9. PubMed ID: 20652400
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway.
    Frost P; Jugessur A; Apold J; Heimdal K; Aloysius T; Eliassen AK; Fauske L; Matre G; Eiken HG
    Dis Markers; 2005; 21(1):29-36. PubMed ID: 15735322
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
    Cini G; Mezzavilla M; Della Puppa L; Cupelli E; Fornasin A; D'Elia AV; Dolcetti R; Damante G; Bertok S; Miolo G; Maestro R; de Paoli P; Amoroso A; Viel A
    BMC Med Genet; 2016 Feb; 17():11. PubMed ID: 26852130
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
    Durocher F; Labrie Y; Soucy P; Sinilnikova O; Labuda D; Bessette P; Chiquette J; Laframboise R; Lépine J; Lespérance B; Ouellette G; Pichette R; Plante M; Tavtigian SV; Simard J
    BMC Cancer; 2006 Sep; 6():230. PubMed ID: 17010193
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.
    Bergman A; Einbeigi Z; Olofsson U; Taib Z; Wallgren A; Karlsson P; Wahlström J; Martinsson T; Nordling M
    Eur J Hum Genet; 2001 Oct; 9(10):787-93. PubMed ID: 11781691
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
    Krivokuca A; Dragos VS; Stamatovic L; Blatnik A; Boljevic I; Stegel V; Rakobradovic J; Skerl P; Jovandic S; Krajc M; Magic MB; Novakovic S
    Fam Cancer; 2018 Apr; 17(2):179-185. PubMed ID: 28685474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene.
    Hamann U; Brauch H; Garvin AM; Bastert G; Scott RJ
    Genes Chromosomes Cancer; 1997 Feb; 18(2):126-32. PubMed ID: 9115962
    [TBL] [Abstract][Full Text] [Related]  

  • 15. BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.
    Muller D; Bonaiti-Pellié C; Abecassis J; Stoppa-Lyonnet D; Fricker JP
    Fam Cancer; 2004; 3(1):15-20. PubMed ID: 15131401
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.
    Ward BD; Hendrickson BC; Judkins T; Deffenbaugh AM; Leclair B; Ward BE; Scholl T
    J Mol Diagn; 2005 Feb; 7(1):139-42. PubMed ID: 15681486
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence for an ancient BRCA1 mutation in breast cancer patients of Yoruban ancestry.
    Zhang B; Fackenthal JD; Niu Q; Huo D; Sveen WE; DeMarco T; Adebamowo CA; Ogundiran T; Olopade OI
    Fam Cancer; 2009; 8(1):15-22. PubMed ID: 18679828
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.
    Apostolou P; Pertesi M; Aleporou-Marinou V; Dimitrakakis C; Papadimitriou C; Razis E; Christodoulou C; Fountzilas G; Yannoukakos D; Konstantopoulou I; Fostira F
    Clin Genet; 2017 Mar; 91(3):482-487. PubMed ID: 27357818
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
    Caleca L; Putignano AL; Colombo M; Congregati C; Sarkar M; Magliery TJ; Ripamonti CB; Foglia C; Peissel B; Zaffaroni D; Manoukian S; Tondini C; Barile M; Pensotti V; Bernard L; Papi L; Radice P
    PLoS One; 2014; 9(2):e86924. PubMed ID: 24516540
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
    de la Hoya M; Soukarieh O; López-Perolio I; Vega A; Walker LC; van Ierland Y; Baralle D; Santamariña M; Lattimore V; Wijnen J; Whiley P; Blanco A; Raponi M; Hauke J; Wappenschmidt B; Becker A; Hansen TV; Behar R; Investigators K; Niederacher D; Arnold N; Dworniczak B; Steinemann D; Faust U; Rubinstein W; Hulick PJ; Houdayer C; Caputo SM; Castera L; Pesaran T; Chao E; Brewer C; Southey MC; van Asperen CJ; Singer CF; Sullivan J; Poplawski N; Mai P; Peto J; Johnson N; Burwinkel B; Surowy H; Bojesen SE; Flyger H; Lindblom A; Margolin S; Chang-Claude J; Rudolph A; Radice P; Galastri L; Olson JE; Hallberg E; Giles GG; Milne RL; Andrulis IL; Glendon G; Hall P; Czene K; Blows F; Shah M; Wang Q; Dennis J; Michailidou K; McGuffog L; Bolla MK; Antoniou AC; Easton DF; Couch FJ; Tavtigian S; Vreeswijk MP; Parsons M; Meeks HD; Martins A; Goldgar DE; Spurdle AB
    Hum Mol Genet; 2016 Jun; 25(11):2256-2268. PubMed ID: 27008870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.