BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 38417439)

  • 1. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
    Hu C; Huang H; Na J; Lumby C; Abozaid M; Holdren MA; Rao TJ; Karam R; Pesaran T; Weyandt JD; Csuy CM; Seelaus CA; Young CC; Fulk K; Heidari Z; Morais Lyra PC; Couch RE; Persons B; Polley EC; Gnanaolivu RD; Boddicker NJ; Monteiro ANA; Yadav S; Domchek SM; Richardson ME; Couch FJ
    Am J Hum Genet; 2024 Mar; 111(3):584-593. PubMed ID: 38417439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
    Richardson ME; Hu C; Lee KY; LaDuca H; Fulk K; Durda KM; Deckman AM; Goldgar DE; Monteiro ANA; Gnanaolivu R; Hart SN; Polley EC; Chao E; Pesaran T; Couch FJ
    Am J Hum Genet; 2021 Mar; 108(3):458-468. PubMed ID: 33609447
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
    Huang H; Hu C; Na J; Hart SN; Gnanaolivu RD; Abozaid M; Rao T; Tecleab YA; Pesaran T; Lyra PCM; Karam R; Yadav S; Domchek SM; de la Hoya M; Robson M; Mehine M; Bandlamudi C; Mandelker D; Monteiro ANA; Boddicker N; Chen W; Richardson ME; Couch FJ
    bioRxiv; 2023 Dec; ():. PubMed ID: 38168194
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
    Guidugli L; Pankratz VS; Singh N; Thompson J; Erding CA; Engel C; Schmutzler R; Domchek S; Nathanson K; Radice P; Singer C; Tonin PN; Lindor NM; Goldgar DE; Couch FJ
    Cancer Res; 2013 Jan; 73(1):265-75. PubMed ID: 23108138
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    Guidugli L; Shimelis H; Masica DL; Pankratz VS; Lipton GB; Singh N; Hu C; Monteiro ANA; Lindor NM; Goldgar DE; Karchin R; Iversen ES; Couch FJ
    Am J Hum Genet; 2018 Feb; 102(2):233-248. PubMed ID: 29394989
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.
    Brnich SE; Arteaga EC; Wang Y; Tan X; Berg JS
    J Mol Diagn; 2021 Jul; 23(7):847-864. PubMed ID: 33964450
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer.
    Kim HK; Lee EJ; Lee YJ; Kim J; Kim Y; Kim K; Lee SW; Chang S; Lee YJ; Lee JW; Lee W; Chun S; Son BH; Jung KH; Kim YM; Min WK; Ahn SH
    J Hum Genet; 2020 Mar; 65(3):209-220. PubMed ID: 31907386
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
    Damiola F; Pertesi M; Oliver J; Le Calvez-Kelm F; Voegele C; Young EL; Robinot N; Forey N; Durand G; Vallée MP; Tao K; Roane TC; Williams GJ; Hopper JL; Southey MC; Andrulis IL; John EM; Goldgar DE; Lesueur F; Tavtigian SV
    Breast Cancer Res; 2014 Jun; 16(3):R58. PubMed ID: 24894818
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
    Cherbal F; Salhi N; Bakour R; Adane S; Boualga K; Maillet P
    Dis Markers; 2012; 32(6):343-53. PubMed ID: 22684231
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.
    Jimenez-Sainz J; Jensen RB
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065235
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
    Hart SN; Hoskin T; Shimelis H; Moore RM; Feng B; Thomas A; Lindor NM; Polley EC; Goldgar DE; Iversen E; Monteiro ANA; Suman VJ; Couch FJ
    Genet Med; 2019 Jan; 21(1):71-80. PubMed ID: 29884841
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
    J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
    Caleca L; Catucci I; Figlioli G; De Cecco L; Pesaran T; Ward M; Volorio S; Falanga A; Marchetti M; Iascone M; Tondini C; Zambelli A; Azzollini J; Manoukian S; Radice P; Peterlongo P
    Front Oncol; 2018; 8():480. PubMed ID: 30410870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.