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6. 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]
7. 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]
8. Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. Tram E; Savas S; Ozcelik H PLoS One; 2013; 8(5):e62468. PubMed ID: 23704879 [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]
11. Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling. Moghadasi S; Hofland N; Wouts JN; Hogervorst FB; Wijnen JT; Vreeswijk MP; van Asperen CJ J Med Genet; 2013 Feb; 50(2):74-9. PubMed ID: 23231788 [TBL] [Abstract][Full Text] [Related]
12. DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment. Toland AE; Andreassen PR J Med Genet; 2017 Nov; 54(11):721-731. PubMed ID: 28866612 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. Karabachev AD; Martini DJ; Hermel DJ; Solcz D; Richardson ME; Pesaran T; Sarkar IN; Greenblatt MS PLoS One; 2020; 15(8):e0233673. PubMed ID: 32750050 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. Biswas K; Das R; Eggington JM; Qiao H; North SL; Stauffer S; Burkett SS; Martin BK; Southon E; Sizemore SC; Pruss D; Bowles KR; Roa BB; Hunter N; Tessarollo L; Wenstrup RJ; Byrd RA; Sharan SK Hum Mol Genet; 2012 Sep; 21(18):3993-4006. PubMed ID: 22678057 [TBL] [Abstract][Full Text] [Related]
18. Functional assays for classification of BRCA2 variants of uncertain significance. Farrugia DJ; Agarwal MK; Pankratz VS; Deffenbaugh AM; Pruss D; Frye C; Wadum L; Johnson K; Mentlick J; Tavtigian SV; Goldgar DE; Couch FJ Cancer Res; 2008 May; 68(9):3523-31. PubMed ID: 18451181 [TBL] [Abstract][Full Text] [Related]
19. Functional assays for analysis of variants of uncertain significance in BRCA2. Guidugli L; Carreira A; Caputo SM; Ehlen A; Galli A; Monteiro AN; Neuhausen SL; Hansen TV; Couch FJ; Vreeswijk MP; Hum Mutat; 2014 Feb; 35(2):151-64. PubMed ID: 24323938 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]