107 related articles for article (PubMed ID: 30105462)
1. Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
Tudini E; Moghadasi S; Parsons MT; van der Kolk L; van den Ouweland AMW; Niederacher D; Feliubadaló L; Wappenschmidt B; Spurdle AB; Lazaro C
Breast Cancer Res Treat; 2018 Nov; 172(2):497-503. PubMed ID: 30105462
[TBL] [Abstract][Full Text] [Related]
2. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT; Tudini E; Li H; Hahnen E; Wappenschmidt B; Feliubadaló L; Aalfs CM; Agata S; Aittomäki K; Alducci E; Alonso-Cerezo MC; Arnold N; Auber B; Austin R; Azzollini J; Balmaña J; Barbieri E; Bartram CR; Blanco A; Blümcke B; Bonache S; Bonanni B; Borg Å; Bortesi B; Brunet J; Bruzzone C; Bucksch K; Cagnoli G; Caldés T; Caliebe A; Caligo MA; Calvello M; Capone GL; Caputo SM; Carnevali I; Carrasco E; Caux-Moncoutier V; Cavalli P; Cini G; Clarke EM; Concolino P; Cops EJ; Cortesi L; Couch FJ; Darder E; de la Hoya M; Dean M; Debatin I; Del Valle J; Delnatte C; Derive N; Diez O; Ditsch N; Domchek SM; Dutrannoy V; Eccles DM; Ehrencrona H; Enders U; Evans DG; Farra C; Faust U; Felbor U; Feroce I; Fine M; Foulkes WD; Galvao HCR; Gambino G; Gehrig A; Gensini F; Gerdes AM; Germani A; Giesecke J; Gismondi V; Gómez C; Gómez Garcia EB; González S; Grau E; Grill S; Gross E; Guerrieri-Gonzaga A; Guillaud-Bataille M; Gutiérrez-Enríquez S; Haaf T; Hackmann K; Hansen TVO; Harris M; Hauke J; Heinrich T; Hellebrand H; Herold KN; Honisch E; Horvath J; Houdayer C; Hübbel V; Iglesias S; Izquierdo A; James PA; Janssen LAM; Jeschke U; Kaulfuß S; Keupp K; Kiechle M; Kölbl A; Krieger S; Kruse TA; Kvist A; Lalloo F; Larsen M; Lattimore VL; Lautrup C; Ledig S; Leinert E; Lewis AL; Lim J; Loeffler M; López-Fernández A; Lucci-Cordisco E; Maass N; Manoukian S; Marabelli M; Matricardi L; Meindl A; Michelli RD; Moghadasi S; Moles-Fernández A; Montagna M; Montalban G; Monteiro AN; Montes E; Mori L; Moserle L; Müller CR; Mundhenke C; Naldi N; Nathanson KL; Navarro M; Nevanlinna H; Nichols CB; Niederacher D; Nielsen HR; Ong KR; Pachter N; Palmero EI; Papi L; Pedersen IS; Peissel B; Perez-Segura P; Pfeifer K; Pineda M; Pohl-Rescigno E; Poplawski NK; Porfirio B; Quante AS; Ramser J; Reis RM; Revillion F; Rhiem K; Riboli B; Ritter J; Rivera D; Rofes P; Rump A; Salinas M; Sánchez de Abajo AM; Schmidt G; Schoenwiese U; Seggewiß J; Solanes A; Steinemann D; Stiller M; Stoppa-Lyonnet D; Sullivan KJ; Susman R; Sutter C; Tavtigian SV; Teo SH; Teulé A; Thomassen M; Tibiletti MG; Tischkowitz M; Tognazzo S; Toland AE; Tornero E; Törngren T; Torres-Esquius S; Toss A; Trainer AH; Tucker KM; van Asperen CJ; van Mackelenbergh MT; Varesco L; Vargas-Parra G; Varon R; Vega A; Velasco Á; Vesper AS; Viel A; Vreeswijk MPG; Wagner SA; Waha A; Walker LC; Walters RJ; Wang-Gohrke S; Weber BHF; Weichert W; Wieland K; Wiesmüller L; Witzel I; Wöckel A; Woodward ER; Zachariae S; Zampiga V; Zeder-Göß C; ; Lázaro C; De Nicolo A; Radice P; Engel C; Schmutzler RK; Goldgar DE; Spurdle AB
Hum Mutat; 2019 Sep; 40(9):1557-1578. PubMed ID: 31131967
[TBL] [Abstract][Full Text] [Related]
3. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Spurdle AB; Lakhani SR; Healey S; Parry S; Da Silva LM; Brinkworth R; Hopper JL; Brown MA; Babikyan D; Chenevix-Trench G; Tavtigian SV; Goldgar DE;
J Clin Oncol; 2008 Apr; 26(10):1657-63. PubMed ID: 18375895
[TBL] [Abstract][Full Text] [Related]
4. Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
Lovelock PK; Healey S; Au W; Sum EY; Tesoriero A; Wong EM; Hinson S; Brinkworth R; Bekessy A; Diez O; Izatt L; Solomon E; Jenkins M; Renard H; Hopper J; Waring P; Tavtigian SV; Goldgar D; Lindeman GJ; Visvader JE; Couch FJ; Henderson BR; Southey M; Chenevix-Trench G; Spurdle AB; Brown MA;
J Med Genet; 2006 Jan; 43(1):74-83. PubMed ID: 15923272
[TBL] [Abstract][Full Text] [Related]
5. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M; Hamel N; Carvalho MA; Birrane G; Soni A; van Beers EH; Joosse SA; Wong N; Novak D; Quenneville LA; Grist SA; ; Nederlof PM; Goldgar DE; Tavtigian SV; Monteiro AN; Ladias JA; Foulkes WD
Eur J Hum Genet; 2008 Jul; 16(7):820-32. PubMed ID: 18285836
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
Spurdle AB; Lakhani SR; Da Silva LM; Balleine RL; ; Goldgar DE
Hum Mutat; 2010 Feb; 31(2):E1141-5. PubMed ID: 20020529
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Surowy HM; Sutter C; Mittnacht M; Klaes R; Schaefer D; Evers C; Burgemeister AL; Goehringer C; Dikow N; Heil J; Golatta M; Schott S; Schneeweiss A; Bugert P; Sohn C; Bartram CR; Burwinkel B
Breast Cancer Res Treat; 2014 Jun; 145(2):451-60. PubMed ID: 24728577
[TBL] [Abstract][Full Text] [Related]
9. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock PK; Spurdle AB; Mok MT; Farrugia DJ; Lakhani SR; Healey S; Arnold S; Buchanan D; ; Couch FJ; Henderson BR; Goldgar DE; Tavtigian SV; Chenevix-Trench G; Brown MA
Breast Cancer Res; 2007; 9(6):R82. PubMed ID: 18036263
[TBL] [Abstract][Full Text] [Related]
10. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
[TBL] [Abstract][Full Text] [Related]
11. Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
Whiley PJ; Parsons MT; Leary J; Tucker K; Warwick L; Dopita B; Thorne H; Lakhani SR; Goldgar DE; Brown MA; Spurdle AB
PLoS One; 2014; 9(1):e86836. PubMed ID: 24489791
[TBL] [Abstract][Full Text] [Related]
12. Identification of a founder BRCA1 mutation in the Moroccan population.
Quiles F; Teulé À; Martinussen Tandstad N; Feliubadaló L; Tornero E; Del Valle J; Menéndez M; Salinas M; Wethe Rognlien V; Velasco A; Izquierdo A; Capellá G; Brunet J; Lázaro C
Clin Genet; 2016 Oct; 90(4):361-5. PubMed ID: 26864382
[TBL] [Abstract][Full Text] [Related]
13. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Chenevix-Trench G; Healey S; Lakhani S; Waring P; Cummings M; Brinkworth R; Deffenbaugh AM; Burbidge LA; Pruss D; Judkins T; Scholl T; Bekessy A; Marsh A; Lovelock P; Wong M; Tesoriero A; Renard H; Southey M; Hopper JL; Yannoukakos K; Brown M; Easton D; Tavtigian SV; Goldgar D; Spurdle AB;
Cancer Res; 2006 Feb; 66(4):2019-27. PubMed ID: 16489001
[TBL] [Abstract][Full Text] [Related]
14. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
Foo TK; Tischkowitz M; Simhadri S; Boshari T; Zayed N; Burke KA; Berman SH; Blecua P; Riaz N; Huo Y; Ding YC; Neuhausen SL; Weigelt B; Reis-Filho JS; Foulkes WD; Xia B
Oncogene; 2017 Jul; 36(29):4161-4170. PubMed ID: 28319063
[TBL] [Abstract][Full Text] [Related]
15. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V; Zharkikh A; Deffenbaugh AM; Frank D; Chen Y; Shattuck D; Skolnick MH; Gutin A; Tavtigian SV
J Med Genet; 2004 Jul; 41(7):492-507. PubMed ID: 15235020
[TBL] [Abstract][Full Text] [Related]
16. Functional Categorization of
Bouwman P; van der Heijden I; van der Gulden H; de Bruijn R; Braspenning ME; Moghadasi S; Wessels LFA; ; Vreeswijk MPG; Jonkers J
Clin Cancer Res; 2020 Sep; 26(17):4559-4568. PubMed ID: 32546644
[TBL] [Abstract][Full Text] [Related]
17. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC; Whiley PJ; Couch FJ; Farrugia DJ; Healey S; Eccles DM; Lin F; Butler SA; Goff SA; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Spurdle AB
Hum Mutat; 2010 Jun; 31(6):E1484-505. PubMed ID: 20513136
[TBL] [Abstract][Full Text] [Related]
18. Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
Ryu JM; Kang G; Nam SJ; Kim SW; Yu J; Lee SK; Bae SY; Park S; Paik HJ; Kim JW; Park SS; Lee JE; Kim SW
Breast; 2017 Jun; 33():109-116. PubMed ID: 28364669
[TBL] [Abstract][Full Text] [Related]
19. BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
Zuntini R; Cortesi L; Calistri D; Pippucci T; Martelli PL; Casadio R; Capizzi E; Santini D; Miccoli S; Medici V; Danesi R; Marchi I; Zampiga V; Fiorentino M; Ferrari S; Turchetti D
Oncotarget; 2017 Apr; 8(14):22640-22648. PubMed ID: 28186987
[TBL] [Abstract][Full Text] [Related]
20. Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
Langerud J; Jarhelle E; Van Ghelue M; Ariansen SL; Iversen N
Hum Genomics; 2018 Nov; 12(1):51. PubMed ID: 30458859
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
