326 related articles for article (PubMed ID: 28408614)
1. Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.
Gradishar W; Johnson K; Brown K; Mundt E; Manley S
Oncologist; 2017 Jul; 22(7):797-803. PubMed ID: 28408614
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
Kim JH; Park S; Park HS; Park JS; Lee ST; Kim SW; Lee JW; Lee MH; Park SK; Noh WC; Choi DH; Han W; Jung SH
Sci Rep; 2021 Apr; 11(1):8485. PubMed ID: 33875706
[TBL] [Abstract][Full Text] [Related]
4. Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
Vail PJ; Morris B; van Kan A; Burdett BC; Moyes K; Theisen A; Kerr ID; Wenstrup RJ; Eggington JM
J Community Genet; 2015 Oct; 6(4):351-9. PubMed ID: 25782689
[TBL] [Abstract][Full Text] [Related]
5. Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Rosenthal ET; Bowles KR; Pruss D; van Kan A; Vail PJ; McElroy H; Wenstrup RJ
Clin Genet; 2015 Dec; 88(6):533-41. PubMed ID: 25639900
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Consistency of
Lincoln SE; Yang S; Cline MS; Kobayashi Y; Zhang C; Topper S; Haussler D; Paten B; Nussbaum RL
JCO Precis Oncol; 2017 Jul; 1():. PubMed ID: 28782058
[TBL] [Abstract][Full Text] [Related]
8. Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Pruss D; Morris B; Hughes E; Eggington JM; Esterling L; Robinson BS; van Kan A; Fernandes PH; Roa BB; Gutin A; Wenstrup RJ; Bowles KR
Breast Cancer Res Treat; 2014 Aug; 147(1):119-32. PubMed ID: 25085752
[TBL] [Abstract][Full Text] [Related]
9. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison SM; Dolinksy JS; Chen W; Collins CD; Das S; Deignan JL; Garber KB; Garcia J; Jarinova O; Knight Johnson AE; Koskenvuo JW; Lee H; Mao R; Mar-Heyming R; McFaddin AS; Moyer K; Nagan N; Rentas S; Santani AB; Seppälä EH; Shirts BH; Tidwell T; Topper S; Vincent LM; Vinette K; Rehm HL;
Hum Mutat; 2018 Nov; 39(11):1641-1649. PubMed ID: 30311378
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS; Soper ER; Odgis JA; Cullina S; Bobo D; Moscati A; Rodriguez JE; ; ; Loos RJF; Cho JH; Belbin GM; Suckiel SA; Kenny EE
Genome Med; 2019 Dec; 12(1):2. PubMed ID: 31892343
[TBL] [Abstract][Full Text] [Related]
11. Sources of discordance among germ-line variant classifications in ClinVar.
Yang S; Lincoln SE; Kobayashi Y; Nykamp K; Nussbaum RL; Topper S
Genet Med; 2017 Oct; 19(10):1118-1126. PubMed ID: 28569743
[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. Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?
Yin K; Liu Y; Lamichhane B; Sandbach JF; Patel G; Compagnoni G; Kanak RH; Rosen B; Ondrula DP; Smith L; Brown E; Gold L; Whitworth P; App C; Euhus D; Semine A; Dwight Lyons S; Lazarte MAC; Parmigiani G; Braun D; Hughes KS
Ann Surg Oncol; 2020 Jul; 27(7):2212-2220. PubMed ID: 32342295
[TBL] [Abstract][Full Text] [Related]
14. In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
Poon KS
Sci Rep; 2021 May; 11(1):11114. PubMed ID: 34045478
[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. 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]
17. Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in
Hwang SM; Lee KC; Lee MS; Park KU
Cancer Res Treat; 2018 Jan; 50(1):255-264. PubMed ID: 28392550
[TBL] [Abstract][Full Text] [Related]
18. Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.
Bland A; Harrington EA; Dunn K; Pariani M; Platt JCK; Grove ME; Caleshu C
Genet Med; 2018 Mar; 20(3):369-373. PubMed ID: 29240077
[TBL] [Abstract][Full Text] [Related]
19. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN; Shirts BH; Slavin TP; Walsh T; King MC; Fowler DM; Pritchard CC
Genet Med; 2020 May; 22(5):825-830. PubMed ID: 31911673
[TBL] [Abstract][Full Text] [Related]
20. The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ; Lee W; Chun S; Min WK
Lab Med; 2021 May; 52(3):250-259. PubMed ID: 32926152
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
