BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 38725546)

  • 1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to
    Zanti M; O'Mahony DG; Parsons MT; Li H; Dennis J; Aittomäkkiki K; Andrulis IL; Anton-Culver H; Aronson KJ; Augustinsson A; Becher H; Bojesen SE; Bolla MK; Brenner H; Brown MA; Buys SS; Canzian F; Caputo SM; Castelao JE; Chang-Claude J; ; Czene K; Daly MB; De Nicolo A; Devilee P; Dörk T; Dunning AM; Dwek M; Eccles DM; Engel C; Evans DG; Fasching PA; Gago-Dominguez M; García-Closas M; García-Sáenz JA; Gentry-Maharaj A; Geurts-Giele WRR; Giles GG; Glendon G; Goldberg MS; Garcia EBG; Güendert M; Guénel P; Hahnen E; Haiman CA; Hall P; Hamann U; Harkness EF; Hogervorst FBL; Hollestelle A; Hoppe R; Hopper JL; Houdayer C; Houlston RS; Howell A; ; Jakimovska M; Jakubowska A; Jernström H; John EM; Kaaks R; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Lacey JV; Lambrechts D; Léoné M; Lindblom A; Lubiński J; Lush M; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Menon U; Milne RL; Monteiro AN; Murphy RA; Neuhausen SL; Nevanlinna H; Newman WG; Offit K; Park SK; James P; Peterlongo P; Peto J; Plaseska-Karanfilska D; Punie K; Radice P; Rashid MU; Rennert G; Romero A; Rosenberg EH; Saloustros E; Sandler DP; Schmidt MK; Schmutzler RK; Shu XO; Simard J; Southey MC; Stone J; Stoppa-Lyonnet D; Tamimi RM; Tapper WJ; Taylor JA; Teo SH; Teras LR; Terry MB; Thomassen M; Troester MA; Vachon CM; Vega A; Vreeswijk MPG; Wang Q; Wappenschmidt B; Weinberg CR; Wolk A; Zheng W; Feng B; Couch FJ; Spurdle AB; Easton DF; Goldgar DE; Michailidou K
    Hum Mutat; 2023; 2023():. PubMed ID: 38725546
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reclassification of
    Lee JS; Oh S; Park SK; Lee MH; Lee JW; Kim SW; Son BH; Noh DY; Lee JE; Park HL; Kim MJ; Cho SI; Lee YK; Park SS; Seong MW
    J Med Genet; 2018 Dec; 55(12):794-802. PubMed ID: 30415210
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
    Hu C; Susswein LR; Roberts ME; Yang H; Marshall ML; Hiraki S; Berkofsky-Fessler W; Gupta S; Shen W; Dunn CA; Huang H; Na J; Domchek SM; Yadav S; Monteiro ANA; Polley EC; Hart SN; Hruska KS; Couch FJ
    Clin Cancer Res; 2022 Sep; 28(17):3742-3751. PubMed ID: 35736817
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
    So MK; Jeong TD; Lim W; Moon BI; Paik NS; Kim SC; Huh J
    Breast Cancer; 2019 Jul; 26(4):510-519. PubMed ID: 30725392
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for
    Innella G; Ferrari S; Miccoli S; Luppi E; Fortuno C; Parsons MT; Spurdle AB; Turchetti D
    J Med Genet; 2024 Apr; 61(5):483-489. PubMed ID: 38160042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
    Lindor NM; Goldgar DE; Tavtigian SV; Plon SE; Couch FJ
    Oncologist; 2013; 18(5):518-24. PubMed ID: 23615697
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.
    Andreis TF; de Souza KIW; Vieira IA; Alemar B; Sinigaglia M; de Araújo Rocha YM; Artigalás O; Bittar C; Oliveira Netto CB; Ashton-Prolla P; Rosset C
    Gene; 2023 Apr; 862():147281. PubMed ID: 36775216
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MARGINAL: An Automatic Classification of Variants in
    Karalidou V; Kalfakakou D; Papathanasiou A; Fostira F; Matsopoulos GK
    Biomolecules; 2022 Oct; 12(11):. PubMed ID: 36358902
    [TBL] [Abstract][Full Text] [Related]  

  • 10. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
    Eccles DM; Mitchell G; Monteiro AN; Schmutzler R; Couch FJ; Spurdle AB; Gómez-García EB;
    Ann Oncol; 2015 Oct; 26(10):2057-65. PubMed ID: 26153499
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.
    Kim JJ; Kim DJ; Nam EJ; Song KE; Ham JY; Kim YK; Lee NY
    Clin Lab; 2024 Apr; 70(4):. PubMed ID: 38623660
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
    O'Mahony DG; Ramus SJ; Southey MC; Meagher NS; Hadjisavvas A; John EM; Hamann U; Imyanitov EN; Andrulis IL; Sharma P; Daly MB; Hake CR; Weitzel JN; Jakubowska A; Godwin AK; Arason A; Bane A; Simard J; Soucy P; Caligo MA; Mai PL; Claes KBM; Teixeira MR; Chung WK; Lazaro C; Hulick PJ; Toland AE; Pedersen IS; ; Neuhausen SL; Vega A; de la Hoya M; Nevanlinna H; Dhawan M; Zampiga V; Danesi R; Varesco L; Gismondi V; Vellone VG; James PA; Janavicius R; Nikitina-Zake L; Nielsen FC; van Overeem Hansen T; Pejovic T; Borg A; Rantala J; Offit K; Montagna M; Nathanson KL; Domchek SM; Osorio A; García MJ; Karlan BY; ; De Fazio A; Bowtell D; ; McGuffog L; Leslie G; Parsons MT; Dörk T; Speith LM; Dos Santos ES; da Costa AABA; Radice P; Peterlongo P; Papi L; Engel C; Hahnen E; Schmutzler RK; Wappenschmidt B; Easton DF; Tischkowitz M; Singer CF; Tan YY; Whittemore AS; Sieh W; Brenton JD; Yannoukakos D; Fostira F; Konstantopoulou I; Soukupova J; Vocka M; ; Chenevix-Trench G; Pharoah PDP; Antoniou AC; Goldgar DE; Spurdle AB; Michailidou K; ;
    Br J Cancer; 2023 Jun; 128(12):2283-2294. PubMed ID: 37076566
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
    Park KS; Cho EY; Nam SJ; Ki CS; Kim JW
    Genet Med; 2016 Dec; 18(12):1250-1257. PubMed ID: 27124784
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
    Caputo SM; Golmard L; Léone M; Damiola F; Guillaud-Bataille M; Revillion F; Rouleau E; Derive N; Buisson A; Basset N; Schwartz M; Vilquin P; Garrec C; Privat M; Gay-Bellile M; Abadie C; Abidallah K; Airaud F; Allary AS; Barouk-Simonet E; Belotti M; Benigni C; Benusiglio PR; Berthemin C; Berthet P; Bertrand O; Bézieau S; Bidart M; Bignon YJ; Birot AM; Blanluet M; Bloucard A; Bombled J; Bonadona V; Bonnet F; Bonnet-Dupeyron MN; Boulaire M; Boulouard F; Bouras A; Bourdon V; Brahimi A; Brayotel F; Bressac de Paillerets B; Bronnec N; Bubien V; Buecher B; Cabaret O; Carriere J; Chiesa J; Chieze-Valéro S; Cohen C; Cohen-Haguenauer O; Colas C; Collonge-Rame MA; Conoy AL; Coulet F; Coupier I; Crivelli L; Cusin V; De Pauw A; Dehainault C; Delhomelle H; Delnatte C; Demontety S; Denizeau P; Devulder P; Dreyfus H; d'Enghein CD; Dupré A; Durlach A; Dussart S; Fajac A; Fekairi S; Fert-Ferrer S; Fiévet A; Fouillet R; Mouret-Fourme E; Gauthier-Villars M; Gesta P; Giraud S; Gladieff L; Goldbarg V; Goussot V; Guibert V; Guillerm E; Guy C; Hardouin A; Heude C; Houdayer C; Ingster O; Jacquot-Sawka C; Jones N; Krieger S; Lacoste S; Lallaoui H; Larbre H; Laugé A; Le Guyadec G; Le Mentec M; Lecerf C; Le Gall J; Legendre B; Legrand C; Legros A; Lejeune S; Lidereau R; Lignon N; Limacher JM; Doriane Livon ; Lizard S; Longy M; Lortholary A; Macquere P; Mailliez A; Malsa S; Margot H; Mari V; Maugard C; Meira C; Menjard J; Molière D; Moncoutier V; Moretta-Serra J; Muller E; Nevière Z; Nguyen Minh Tuan TV; Noguchi T; Noguès C; Oca F; Popovici C; Prieur F; Raad S; Rey JM; Ricou A; Salle L; Saule C; Sevenet N; Simaga F; Sobol H; Suybeng V; Tennevet I; Tenreiro H; Tinat J; Toulas C; Turbiez I; Uhrhammer N; Vande Perre P; Vaur D; Venat L; Viellard N; Villy MC; Warcoin M; Yvard A; Zattara H; Caron O; Lasset C; Remenieras A; Boutry-Kryza N; Castéra L; Stoppa-Lyonnet D
    Am J Hum Genet; 2021 Oct; 108(10):1907-1923. PubMed ID: 34597585
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
    Easton DF; Deffenbaugh AM; Pruss D; Frye C; Wenstrup RJ; Allen-Brady K; Tavtigian SV; Monteiro AN; Iversen ES; Couch FJ; Goldgar DE
    Am J Hum Genet; 2007 Nov; 81(5):873-83. PubMed ID: 17924331
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population.
    Li D; Shi Y; Li A; Cao D; Su H; Yang H; Zhi Q; Yang Y; Lan Z; Zhou T; You X; Hu G
    Breast Cancer; 2020 Nov; 27(6):1158-1167. PubMed ID: 32566972
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
    Cline MS; Babbi G; Bonache S; Cao Y; Casadio R; de la Cruz X; Díez O; Gutiérrez-Enríquez S; Katsonis P; Lai C; Lichtarge O; Martelli PL; Mishne G; Moles-Fernández A; Montalban G; Mooney SD; O'Conner R; Ootes L; Özkan S; Padilla N; Pagel KA; Pejaver V; Radivojac P; Riera C; Savojardo C; Shen Y; Sun Y; Topper S; Parsons MT; Spurdle AB; Goldgar DE;
    Hum Mutat; 2019 Sep; 40(9):1546-1556. PubMed ID: 31294896
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variant classification changes over time in BRCA1 and BRCA2.
    Mighton C; Charames GS; Wang M; Zakoor KR; Wong A; Shickh S; Watkins N; Lebo MS; Bombard Y; Lerner-Ellis J
    Genet Med; 2019 Oct; 21(10):2248-2254. PubMed ID: 30971832
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.